AiPD: Autoinhibited Protein Database

O60674

Gene name	JAK2
Protein name	Tyrosine-protein kinase JAK2
Names	Janus kinase 2, JAK-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3717
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE HOPSCOTCH (PTHR45807)

Descriptions

JAK2 is tyrosine-protein kinase which mediates essential signaling events in both innate and adaptive immunity. JH2 domain inhibits its partnering JAK2 monomer. V617F substitution and autophosphorylation of Y570, located in the pseudokinase domain, relieves the autoinhibition of JAK2's kinase activity. The JAK2 pseudokinase domain negatively regulates the activity of JAK2. Kinase augments downstream JAK2-STAT signaling pathways are constitutively activated by the autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	849-1126 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay	Mutagenesis experiment, Structural analysis

AID

547-813 (Pseudokinase, JH2 domain)

Target domain

849-1126 (Protein kinase domain)

Relief mechanism

Partner binding (Binding to receptors), PTM (Phosphorylation on Tyr1007 and Tyr1008)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

698-717 (Activation loop from InterPro)

Target domain	545-809 (Protein kinase domain)
Relief mechanism
Assay

993-1019 (Activation loop from InterPro)

Target domain	849-1126 (Protein kinase domain)
Relief mechanism
Assay

References

Ma W et al. (2009) "Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias", The Journal of molecular diagnostics : JMD, 11, 49-53

Hubbard SR (2017) "Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase", Frontiers in endocrinology, 8, 361

Autoinhibited structure

Activated structure

162 structures for O60674

Entry ID	Method	Resolution	Chain	Position	Source
2B7A	X-ray	200 A	A/B	840-1132	PDB
2W1I	X-ray	260 A	A/B	835-1132	PDB
2XA4	X-ray	204 A	A/B	835-1132	PDB
3E62	X-ray	192 A	A	839-1131	PDB
3E63	X-ray	190 A	A	839-1131	PDB
3E64	X-ray	180 A	A	839-1131	PDB
3FUP	X-ray	240 A	A/B	840-1132	PDB
3IO7	X-ray	260 A	A	842-1132	PDB
3IOK	X-ray	210 A	A	842-1132	PDB
3JY9	X-ray	210 A	A	842-1130	PDB
3KCK	X-ray	220 A	A	842-1132	PDB
3KRR	X-ray	180 A	A	840-1132	PDB
3LPB	X-ray	200 A	A/B	840-1132	PDB
3Q32	X-ray	250 A	A/B	839-1132	PDB
3RVG	X-ray	250 A	A	835-1132	PDB
3TJC	X-ray	240 A	A/B	837-1132	PDB
3TJD	X-ray	290 A	A/B	837-1132	PDB
3UGC	X-ray	134 A	A	840-1132	PDB
3ZMM	X-ray	251 A	A/B	835-1132	PDB
4AQC	X-ray	190 A	A/B	835-1132	PDB
4BBE	X-ray	190 A	A/B/C/D	839-1132	PDB
4BBF	X-ray	200 A	A/B/C/D	839-1132	PDB
4C61	X-ray	245 A	A/B	835-1132	PDB
4C62	X-ray	275 A	A/B	835-1132	PDB
4D0W	X-ray	177 A	A	835-1132	PDB
4D0X	X-ray	182 A	A	835-1132	PDB
4D1S	X-ray	166 A	A	835-1132	PDB
4E4M	X-ray	225 A	A/B/D/E	833-1132	PDB
4E6D	X-ray	222 A	A/B	835-1132	PDB
4E6Q	X-ray	195 A	A/B	835-1132	PDB
4F08	X-ray	282 A	A/B	833-1132	PDB
4F09	X-ray	240 A	A	833-1132	PDB
4FVP	X-ray	201 A	A	536-812	PDB
4FVQ	X-ray	175 A	A	536-812	PDB
4FVR	X-ray	200 A	A	536-812	PDB
4GFM	X-ray	230 A	A	833-1132	PDB
4GMY	X-ray	240 A	A	833-1132	PDB
4HGE	X-ray	230 A	A/B	833-1132	PDB
4IVA	X-ray	150 A	A	833-1132	PDB
4JI9	X-ray	240 A	A/B	833-1132	PDB
4JIA	X-ray	185 A	A	833-1132	PDB
4P7E	X-ray	240 A	A/B	840-1132	PDB
4YTC	X-ray	216 A	A	842-1132	PDB
4YTF	X-ray	178 A	A	842-1132	PDB
4YTH	X-ray	204 A	A	842-1132	PDB
4YTI	X-ray	252 A	A	842-1132	PDB
4Z32	X-ray	304 A	A/B/C/D/E/F/G/H	31-516	PDB
4ZIM	X-ray	265 A	A/B	839-1132	PDB
5AEP	X-ray	195 A	A	835-1132	PDB
5CF4	X-ray	238 A	A/B	839-1132	PDB
5CF5	X-ray	245 A	A/B	839-1132	PDB
5CF6	X-ray	250 A	A/B	839-1132	PDB
5CF8	X-ray	180 A	A/B	839-1132	PDB
5HEZ	X-ray	266 A	A/B/C/D	833-1132	PDB
5I4N	X-ray	154 A	A	535-812	PDB
5L3A	X-ray	198 A	A	840-1132	PDB
5TQ3	X-ray	269 A	A/B	837-1132	PDB
5TQ4	X-ray	230 A	A	837-1132	PDB
5TQ5	X-ray	230 A	A	837-1132	PDB
5TQ6	X-ray	206 A	A/B	837-1132	PDB
5TQ7	X-ray	210 A	A/B	837-1132	PDB
5TQ8	X-ray	159 A	A	837-1132	PDB
5USY	X-ray	200 A	A/B	840-1132	PDB
5USZ	X-ray	210 A	A	536-812	PDB
5UT0	X-ray	210 A	A	536-812	PDB
5UT1	X-ray	195 A	A	536-812	PDB
5UT2	X-ray	175 A	A	536-812	PDB
5UT3	X-ray	150 A	A	536-812	PDB
5UT4	X-ray	200 A	A	536-812	PDB
5UT5	X-ray	190 A	A	536-812	PDB
5UT6	X-ray	165 A	A	536-812	PDB
5WEV	X-ray	185 A	A	833-1132	PDB
5WIJ	X-ray	204 A	A	536-812	PDB
5WIK	X-ray	260 A	B	536-812	PDB
5WIL	X-ray	220 A	A	536-812	PDB
5WIM	X-ray	255 A	A	536-812	PDB
5WIN	X-ray	238 A	A	536-812	PDB
6AAJ	X-ray	237 A	A/B	834-1132	PDB
6BBV	X-ray	180 A	A	837-1132	PDB
6BRW	X-ray	203 A	A	536-812	PDB
6BS0	X-ray	154 A	A	536-812	PDB
6BSS	X-ray	210 A	A	536-812	PDB
6D2I	X-ray	319 A	A/B	536-808	PDB
6DRW	X-ray	230 A	A	840-1132	PDB
6E2P	X-ray	283 A	A/B	36-514	PDB
6E2Q	X-ray	265 A	A/B/C/D	36-514	PDB
6G3C	X-ray	160 A	A/B	537-808	PDB
6M9H	X-ray	179 A	A	536-812	PDB
6OAV	X-ray	194 A	A	536-812	PDB
6OBB	X-ray	190 A	A	536-812	PDB
6OBF	X-ray	171 A	A	536-812	PDB
6OBL	X-ray	206 A	A	536-812	PDB
6OCC	X-ray	203 A	A	536-812	PDB
6TPD	X-ray	199 A	A	842-1130	PDB
6VGL	X-ray	190 A	A/B/C/D	840-1132	PDB
6VN8	X-ray	190 A	A/B	840-1132	PDB
6VNB	X-ray	219 A	A/B	840-1132	PDB
6VNC	X-ray	230 A	A/B	840-1132	PDB
6VNE	X-ray	232 A	A/B	840-1132	PDB
6VNF	X-ray	206 A	A/B	840-1132	PDB
6VNG	X-ray	250 A	A/B	840-1132	PDB
6VNH	X-ray	240 A	A/B	840-1132	PDB
6VNI	X-ray	210 A	A/B	840-1132	PDB
6VNJ	X-ray	190 A	A/B	840-1132	PDB
6VNK	X-ray	200 A	A/B/C/D	840-1132	PDB
6VNL	X-ray	240 A	A/B/C/D	840-1132	PDB
6VNM	X-ray	220 A	A/B	840-1132	PDB
6VS3	X-ray	200 A	A/B	840-1132	PDB
6VSN	X-ray	250 A	A/B/C/D	840-1132	PDB
6WTN	X-ray	183 A	A	835-1132	PDB
6WTO	X-ray	174 A	A	835-1132	PDB
6WTP	X-ray	250 A	A	835-1132	PDB
6WTQ	X-ray	180 A	A	835-1132	PDB
6X8E	X-ray	175 A	A/B	837-1132	PDB
6XJK	X-ray	202 A	A	536-812	PDB
7F7W	X-ray	183 A	A/B	536-810	PDB
7JYO	X-ray	216 A	A	536-812	PDB
7JYQ	X-ray	186 A	A	536-812	PDB
7LL4	X-ray	131 A	A	839-1132	PDB
7LL5	X-ray	150 A	A	840-1132	PDB
7Q7I	X-ray	178 A	A	839-1132	PDB
7Q7K	X-ray	161 A	A	839-1132	PDB
7Q7L	X-ray	197 A	A	839-1132	PDB
7Q7W	X-ray	185 A	A	839-1132	PDB
7REE	X-ray	138 A	A	839-1132	PDB
7RN6	X-ray	150 A	A	839-1132	PDB
7T0P	X-ray	204 A	A/B	536-812	PDB
7T1T	X-ray	208 A	A	536-812	PDB
7TEU	X-ray	145 A	A	837-1132	PDB
7UYW	X-ray	251 A	A	842-1132	PDB
8B8N	X-ray	200 A	A	536-812	PDB
8B8U	X-ray	150 A	A/B	536-812	PDB
8B99	X-ray	160 A	A	536-812	PDB
8B9E	X-ray	150 A	A	536-812	PDB
8B9H	X-ray	150 A	A	536-812	PDB
8BA2	X-ray	150 A	A	536-812	PDB
8BA3	X-ray	140 A	A	536-812	PDB
8BA4	X-ray	210 A	A/B	536-812	PDB
8BAB	X-ray	155 A	A	536-812	PDB
8BAK	X-ray	165 A	A	536-812	PDB
8BM2	X-ray	150 A	A/B	840-1132	PDB
8BPV	X-ray	170 A	A	840-1132	PDB
8BPW	X-ray	180 A	A/B	840-1132	PDB
8BX6	X-ray	150 A	A	840-1132	PDB
8BX9	X-ray	140 A	A/B	840-1132	PDB
8BXC	X-ray	190 A	A/B	840-1132	PDB
8BXH	X-ray	130 A	A	840-1132	PDB
8C08	X-ray	220 A	A/B	536-812	PDB
8C09	X-ray	190 A	A	536-812	PDB
8C0A	X-ray	170 A	A/B	536-812	PDB
8CZ9	X-ray	165 A	C	811-818	PDB
8EX0	X-ray	185 A	A	536-812	PDB
8EX1	X-ray	150 A	A	536-812	PDB
8EX2	X-ray	190 A	A	536-812	PDB
8EXK	X-ray	210 A	B	1000-1015	PDB
8EYA	X-ray	210 A	D/E	1000-1015	PDB
8EYB	X-ray	235 A	D/E	1000-1015	PDB
8F88	X-ray	310 A	E/F/G	1000-1015	PDB
8G6Z	X-ray	245 A	A/B	837-1132	PDB
8G8O	X-ray	220 A	A/B	837-1132	PDB
8G8X	X-ray	197 A	A/B	837-1132	PDB
AF-O60674-F1	Predicted				AlphaFoldDB

833 variants for O60674

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA372817184 RCV001270212 rs1299892808 RCV001760153	146	D>N	Premature ovarian failure Primary familial polycythemia due to EPO receptor mutation [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM29103 RCV001356933 CA4971934 rs368927897 RCV000418120	564	R>L	haematopoietic_and_lymphoid_tissue Myeloproliferative disorder [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM17579 RCV000015773 rs121912472 VAR_032696 CA280203	607	K>N	AML haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000763621 CA124183 RCV000420273 COSM12600 RCV000015772 RCV000428162 RCV000015771 RCV001003803 rs77375493 RCV000015770 RCV001003804 RCV000022627 VAR_032697 RCV000022628 RCV000015769 RCV000427081 RCV001092995	617	V>F	Subacute lymphoid leukemia Myelofibrosis Thrombocythemia 3 (thcyt3) central_nervous_system Primary familial polycythemia due to EPO receptor mutation Budd-Chiari syndrome, susceptibility to, somatic Thrombocythemia 3 Myeloproliferative disorder lung PV, THCYT3 and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity Polycythemia Chronic myelogenous leukemia, BCR-ABL1 positive Acquired polycythemia vera haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, Ensembl, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000022629 CA128623 rs77375493 VAR_067534 COSM29117	617	V>I	THCYT3 Thrombocythemia 3 (thcyt3) Thrombocythemia 3 haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000443966 rs1057519721 COSM29300 RCV000434785 CA16602430	683	R>G	haematopoietic_and_lymphoid_tissue Myeloproliferative disorder Lymphoblastic leukemia, acute, with lymphomatous features [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM29302 COSM29638 rs1057519723 RCV000443665 CA16602433	683	R>S	haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA16602432 RCV000433693 COSM29302 COSM29638 rs1057519723	683	R>S	haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1057519722 CA16602431 RCV000423852 COSM29637	683	R>T	haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057520016 RCV000435377 COSM23940 CA16603117	875	T>N	haematopoietic_and_lymphoid_tissue Myeloproliferative disorder [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1554676441 CA372829336 RCV000505541	933	P>Q	SMALL ROUND CELL TUMOR [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA160177 RCV001250552 rs142269166 COSM33708 RCV000969040 RCV000121246	1108	N>S	Thrombocythemia 3 (thcyt3) large_intestine Thrombocythemia 3 haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4971464 rs772421530	2	G>R		No	ClinGen ExAC gnomAD
CA4971465 rs773675185	4	A>D		No	ClinGen ExAC gnomAD
CA188406299 rs989395358	5	C>F		No	ClinGen Ensembl
rs939621043 CA188406322	6	L>I		No	ClinGen TOPMed
CA4971467 rs770579392	7	T>M		No	ClinGen ExAC TOPMed gnomAD
CA372819367 rs1194427389	9	T>I		No	ClinGen TOPMed
rs945180127 CA188406339	11	M>I		No	ClinGen TOPMed
CA4971469 rs759031245	13	G>V		No	ClinGen ExAC gnomAD
CA4971470 rs764901971	14	T>I		No	ClinGen ExAC gnomAD
CA188406346 rs764901971	14	T>K		No	ClinGen ExAC gnomAD
rs200322825 CA4971471	15	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1266649645 CA372819450	15	S>P		No	ClinGen gnomAD
CA372819473 rs1422678517	16	T>A		No	ClinGen gnomAD
rs1168591378 CA372819491	17	S>F		No	ClinGen gnomAD
COSM3780031 CA372819504 rs1351891082	18	S>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA372819523 rs1302672595	19	I>M		No	ClinGen gnomAD
rs150159583 CA4971475	19	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA188406380 rs906594522	20	Y>D		No	ClinGen Ensembl
rs1319914611 CA372819557	21	Q>H		No	ClinGen TOPMed
rs780253547 CA4971476	22	N>S		No	ClinGen ExAC gnomAD
CA4971477 rs780253547	22	N>T		No	ClinGen ExAC gnomAD
CA4971479 rs779030695	23	G>A		No	ClinGen ExAC gnomAD
CA4971478 rs755035784	23	G>S		No	ClinGen ExAC gnomAD
rs1339135099 CA372819630	25	I>T		No	ClinGen gnomAD
CA4971480 rs748622306	26	S>F		No	ClinGen ExAC gnomAD
CA372819675 rs1232333083	28	N>S		No	ClinGen TOPMed
rs1321992857 CA372819683	29	A>G		No	ClinGen gnomAD
rs778174935 CA372819700	32	M>L		No	ClinGen ExAC gnomAD
rs778174935 CA4971482	32	M>V		No	ClinGen ExAC gnomAD
rs538474116 CA188406447	33	K>T		No	ClinGen gnomAD
CA372819718 rs1194311101	34	Q>R		No	ClinGen gnomAD
rs761588246 CA372819726	35	I>R		No	ClinGen ExAC TOPMed gnomAD
CA4971483 rs761588246	35	I>T		No	ClinGen ExAC TOPMed gnomAD
rs748500115 CA188406457	37	P>L		No	ClinGen Ensembl
CA4971484 rs771216385	38	V>F		No	ClinGen ExAC gnomAD
COSM357107 CA372819752 rs1183427218	40	Q>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA372819760 rs1416185810	40	Q>H		No	ClinGen gnomAD
CA188406472 rs369748023	42	Y>*		No	ClinGen ESP
CA4971487 rs138655335	46	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs143227399 RCV001794992 CA4971490 RCV001822010	48	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4971489 rs762570559	48	G>R		No	ClinGen ExAC gnomAD
rs369833874 CA188406595	52	A>T		No	ClinGen ESP TOPMed
rs761608925 CA4971492	53	D>Y		No	ClinGen ExAC gnomAD
CA372819852 rs1325660414	54	Y>F		No	ClinGen Ensembl
CA4971493 rs767273014	57	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1312201445 CA372819879	59	S>A		No	ClinGen gnomAD
rs754086152 CA4971495	59	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4971494 rs754086152	59	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1439413818 CA372819889	61	E>K		No	ClinGen TOPMed gnomAD
rs139087749 CA4971497	62	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA372819907 rs1211921813	63	V>A		No	ClinGen TOPMed gnomAD
CA4971498 rs758479739	63	V>I		No	ClinGen ExAC gnomAD
rs773146013 CA4971500	65	E>Q		No	ClinGen ExAC gnomAD
CA4971501 rs757639029	66	E>A		No	ClinGen ExAC gnomAD
rs1183227511 CA372819923	66	E>Q		No	ClinGen gnomAD
CA372820199 rs1159373106	69	I>M		No	ClinGen gnomAD
CA372820195 rs1441596935	69	I>T		No	ClinGen gnomAD
CA372820189 rs1563932145	69	I>V		No	ClinGen Ensembl
rs1384823694 CA372820201	70	A>T		No	ClinGen gnomAD
rs551194689 CA188406708	73	K>E		No	ClinGen gnomAD
rs1237113183 CA372820280	76	G>C		No	ClinGen TOPMed
rs1369294136 CA372821714	76	G>D		No	ClinGen TOPMed
rs1438069581 CA372821807	81	Y>D		No	ClinGen TOPMed gnomAD
CA372821805 rs1438069581	81	Y>H		No	ClinGen TOPMed gnomAD
rs1438069581 CA372821803	81	Y>N		No	ClinGen TOPMed gnomAD
rs773772702 CA4971526	84	M>T		No	ClinGen ExAC gnomAD
CA372821999 rs1221424207	88	M>I		No	ClinGen gnomAD
rs1259779273 CA372822052	90	E>D		No	ClinGen gnomAD
rs748095804 CA4971527	93	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1196610367 CA372822159	94	I>M		No	ClinGen gnomAD
CA372822167 rs1250164547	95	W>S		No	ClinGen gnomAD
rs1201149948 CA372822226	98	P>R		No	ClinGen gnomAD
rs760406225 CA4971530	101	V>A		No	ClinGen ExAC TOPMed gnomAD
CA372822319 rs1411165853	103	H>N		No	ClinGen TOPMed
CA4971531 rs770772508	103	H>R		No	ClinGen ExAC gnomAD
rs1465756383 CA372822352	104	I>T		No	ClinGen gnomAD
rs763128346 CA4971533	106	E>Q		No	ClinGen ExAC gnomAD
rs1393954444 CA372822398	106	E>V		No	ClinGen gnomAD
rs764215783 CA4971534	107	S>T		No	ClinGen ExAC gnomAD
CA188413687 rs751548297	108	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4971536 rs761978965	108	T>N		No	ClinGen ExAC gnomAD
CA4971535 rs751548297	108	T>S		No	ClinGen ExAC TOPMed gnomAD
rs969443461 CA188413735	110	H>Y		No	ClinGen TOPMed gnomAD
CA372822479 rs1337737334	111	N>K		No	ClinGen gnomAD
rs143103233 CA4971538	113	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4971539 rs756530639	116	I>V		No	ClinGen ExAC gnomAD
CA4971567 rs778371211	119	Y>H		No	ClinGen ExAC gnomAD
rs147483622 CA4971568	122	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs757898652 CA4971569	122	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746923735 CA4971571	126	S>G		No	ClinGen ExAC gnomAD
CA4971572 rs56118985	127	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484433251 CA372817077	127	G>C		No	ClinGen gnomAD
CA160183 VAR_041716 RCV000121248 RCV000903128 rs56118985	127	G>D		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1586694933 CA372817086	128	S>R		No	ClinGen Ensembl
CA4971573 rs745587711	129	N>H		No	ClinGen ExAC gnomAD
rs1586694954 CA372817096	130	R>K		No	ClinGen Ensembl
rs769648312 CA4971574	131	A>T		No	ClinGen ExAC
CA4971575 rs774426615	132	Y>C		No	ClinGen ExAC gnomAD
CA4971576 rs774426615	132	Y>F		No	ClinGen ExAC gnomAD
rs376070326 CA4971578	133	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371826393 CA4971577	133	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA372817120 rs1156834777	134	H>Q		No	ClinGen gnomAD
rs760861063 CA4971579	134	H>R		No	ClinGen ExAC TOPMed gnomAD
RCV000121247 CA160180 rs140052813	136	I>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372817129 rs140052813	136	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3848610 rs777208458 CA4971581	138	R>P	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4971580 rs777208458 COSM221746	138	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA372817145 rs1175492497	139	G>S		No	ClinGen gnomAD
rs897100091 CA372817153	140	A>G		No	ClinGen TOPMed
rs897100091 CA188402125	140	A>V		No	ClinGen TOPMed
rs765699090 CA4971582	143	P>S		No	ClinGen ExAC gnomAD
rs1450740068 CA372817177	144	L>P		No	ClinGen gnomAD
CA188402141 rs977211315	145	L>F		No	ClinGen TOPMed
CA372817191 rs1374138849	146	D>E		No	ClinGen gnomAD
CA372817193 rs1390949621	147	D>H		No	ClinGen gnomAD
rs1305458955 CA372817208	149	V>I		No	ClinGen gnomAD
CA372817220 rs1262939065	150	M>I		No	ClinGen gnomAD
rs752258527 CA4971583	150	M>T		No	ClinGen ExAC gnomAD
rs1314502511 CA372817215	150	M>V		No	ClinGen gnomAD
CA188402170 rs925878120	151	S>C		No	ClinGen TOPMed gnomAD
rs925878120 CA372817226	151	S>F		No	ClinGen TOPMed gnomAD
rs1320906746 CA372817228	152	Y>H		No	ClinGen gnomAD
rs775872666 CA4971604	158	R>Q		No	ClinGen ExAC gnomAD
rs765494796 CA372818479	158	R>W		No	ClinGen ExAC TOPMed gnomAD
CA372818490 rs201191238	159	H>D		No	ClinGen 1000Genomes ExAC gnomAD
CA4971605 rs201191238	159	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA372818530 rs1586704971	162	V>L		No	ClinGen Ensembl
CA372818545 rs1420440130	163	H>R		No	ClinGen gnomAD
rs1168347611 CA372818550	164	G>R		No	ClinGen TOPMed gnomAD
rs751230342 CA4971607	165	W>R		No	ClinGen ExAC
CA372818582 rs1367539459	166	I>M		No	ClinGen gnomAD
rs907414891 COSM1462552 CA188408909	166	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA372818611 rs1303066147	169	P>A		No	ClinGen gnomAD
rs767125301 CA4971609	169	P>R		No	ClinGen ExAC gnomAD
rs750298503 CA4971610	170	V>M		No	ClinGen ExAC gnomAD
CA372818643 rs1191593743	173	E>K		No	ClinGen gnomAD
rs756128160 CA4971611	175	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs150675431 CA4971614	175	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779879168 CA4971612	175	Q>L		No	ClinGen ExAC gnomAD
rs1006828127 CA188408973	176	E>*		No	ClinGen Ensembl
rs1316795599 CA372818676	176	E>G		No	ClinGen gnomAD
rs1016673565 CA188408978	177	E>V		No	ClinGen TOPMed gnomAD
CA4971616 rs747300909	181	M>I		No	ClinGen ExAC gnomAD
CA372818812 rs1216175351	183	V>A		No	ClinGen gnomAD
rs1241323233 CA372818868	186	M>V		No	ClinGen gnomAD
CA4971617 rs770883479	187	M>I		No	ClinGen ExAC gnomAD
rs781379515 CA4971618	189	I>L		No	ClinGen ExAC gnomAD
CA4971619 rs745954795	191	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1445295304 CA372818978	192	E>Q		No	ClinGen TOPMed gnomAD
rs540747820 CA4971621	194	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA372819015 rs1383887415	194	D>N		No	ClinGen TOPMed gnomAD
CA188409019 rs935518281	196	T>A		No	ClinGen TOPMed
rs1319313254 CA372819071	197	P>L		No	ClinGen TOPMed gnomAD
CA372819098 rs1429131183	199	A>G		No	ClinGen gnomAD
CA4971623 rs376697477	200	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338267116 CA372819101	200	I>V		No	ClinGen gnomAD
CA188409027 rs532894314	201	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1586705230 CA372819146	203	S>C		No	ClinGen Ensembl
rs375180351 CA188409028	204	I>V		No	ClinGen Ensembl
rs1214592807 CA586169405	206	Y>*		No	ClinGen gnomAD
CA372819963 rs1244712025	207	K>T		No	ClinGen TOPMed
rs1225078115 CA372820002	212	K>N		No	ClinGen gnomAD
CA372820003 rs1263554236	213	C>S		No	ClinGen gnomAD
CA372820006 rs1324467147	213	C>Y		No	ClinGen TOPMed gnomAD
rs780530013 CA4971641	214	I>V		No	ClinGen ExAC gnomAD
rs1443023071 CA372820018	215	R>*		No	ClinGen TOPMed gnomAD
CA4971642 rs749863048	215	R>P		No	ClinGen ExAC TOPMed gnomAD
CA188412299 rs749863048 COSM275614	215	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1182671764 CA372820054	220	D>V		No	ClinGen gnomAD
rs774749504 CA4971644	222	H>L		No	ClinGen ExAC gnomAD
rs771717638 CA4971646	223	I>M		No	ClinGen ExAC gnomAD
rs562010686 CA4971645	223	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4971647 COSM1554972 rs772744665	228	R>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760174050 CA4971648 COSM1625026	228	R>Q	liver large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765871588 CA4971650 COSM1187684	230	R>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765871588 CA4971649 COSM1187684	230	R>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA372820127 rs1327641230	231	Y>*		No	ClinGen TOPMed gnomAD
rs1410012879 CA372820120	231	Y>N		No	ClinGen gnomAD
CA372820130 rs1370189356	232	R>K		No	ClinGen TOPMed
CA372820138 rs1586711156	233	F>Y		No	ClinGen Ensembl
rs765286468 CA4971652	234	R>C		No	ClinGen ExAC gnomAD
rs373174105 CA4971653	234	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA188412346 rs62637624	235	R>S		No	ClinGen Ensembl
rs1245763232 CA372820157	236	F>Y		No	ClinGen TOPMed
CA4971654 rs376125987	237	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4971655 rs767716396	237	I>T		No	ClinGen ExAC gnomAD
COSM3943042 CA372820167 rs1466480406	238	Q>*	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1254449695 CA372820172	238	Q>H		No	ClinGen gnomAD
CA372820170 rs1221512954	238	Q>R		No	ClinGen gnomAD
rs750664913 CA4971656	240	F>L		No	ClinGen ExAC gnomAD
rs587778412 CA160189 RCV000121250	240	F>L		No	ClinGen ClinVar Ensembl dbSNP
rs1209683553 CA372820198	241	S>I		No	ClinGen TOPMed
rs587778411 RCV000121249 CA160186	241	S>R		No	ClinGen ClinVar TOPMed dbSNP
CA188412373 rs920992824	243	C>*		No	ClinGen gnomAD
rs1196403245 CA372820236	244	K>Q		No	ClinGen gnomAD
RCV000898706 rs62637625 CA4971657	244	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372820273 rs1482320201	246	T>I		No	ClinGen TOPMed gnomAD
CA372820285 rs780152740	247	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4971658 rs780152740	247	A>V		No	ClinGen ExAC TOPMed gnomAD
rs920001853 CA188412374	248	R>T		No	ClinGen TOPMed gnomAD
rs1270315814 CA372820309	250	L>F		No	ClinGen gnomAD
CA372820303 rs1437563368	250	L>M		No	ClinGen TOPMed
rs200778413 CA188412376	253	K>R		No	ClinGen 1000Genomes gnomAD
CA4971661 rs779429220	257	N>S		No	ClinGen ExAC gnomAD
rs1166748377 CA372820365	259	E>Q		No	ClinGen gnomAD
CA188412399 rs868134160	260	T>A		No	ClinGen Ensembl
rs748480607 CA4971662	264	A>P		No	ClinGen ExAC gnomAD
CA4971663 rs772336800	265	F>L		No	ClinGen ExAC gnomAD
rs772912280 CA4971664	266	Y>H		No	ClinGen ExAC gnomAD
CA4971666 rs770541099	267	T>A		No	ClinGen ExAC gnomAD
CA4971667 rs776230238	269	K>R		No	ClinGen ExAC gnomAD
rs1322647219 CA372820473	275	P>T		No	ClinGen TOPMed
CA4971668 rs759144937	276	G>A		No	ClinGen ExAC TOPMed gnomAD
CA372820487 rs1392759936	277	S>N		No	ClinGen TOPMed
CA372820490 rs1269895569	277	S>R		No	ClinGen TOPMed gnomAD
rs765196728 CA4971669	279	P>L		No	ClinGen ExAC gnomAD
rs1293103784 CA372820507	280	S>L		No	ClinGen gnomAD
rs775577651 CA4971670	280	S>P		No	ClinGen ExAC gnomAD
CA372820512 rs1490339679	281	G>V		No	ClinGen gnomAD
rs762791853 CA372820528	283	E>D		No	ClinGen ExAC TOPMed gnomAD
rs762791853 CA4971672	283	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1447150015 CA372820530	284	I>V		No	ClinGen gnomAD
rs763866230 CA4971673	286	A>T		No	ClinGen ExAC gnomAD
rs1563961042 CA372820550	287	T>A		No	ClinGen Ensembl
rs1445889946 CA372820552	287	T>N		No	ClinGen gnomAD
rs1163700840 CA372820557	288	I>V		No	ClinGen TOPMed gnomAD
rs1384481142 CA372820565	289	I>K		No	ClinGen gnomAD
rs1563961067 CA372820580	291	T>S		No	ClinGen Ensembl
CA188412491 rs200298704	294	G>S		No	ClinGen TOPMed gnomAD
CA4971675 rs756343262	298	W>C		No	ClinGen ExAC gnomAD
rs1317884300 CA372820632	299	S>T		No	ClinGen gnomAD
rs766613605 CA4971676	300	R>G		No	ClinGen ExAC gnomAD
CA4971679 rs753876369	303	H>R		No	ClinGen ExAC gnomAD
CA372820676 rs1447845301	305	E>A		No	ClinGen TOPMed gnomAD
CA372820672 rs1292588542	305	E>Q		No	ClinGen TOPMed
rs755056448 CA4971680	307	E>K		No	ClinGen ExAC gnomAD
CA188412523 rs746340189	310	T>I		No	ClinGen TOPMed gnomAD
rs1245776198 CA372820722	311	E>K		No	ClinGen gnomAD
rs1282212623 CA372821288	316	L>F		No	ClinGen gnomAD
rs778373759 CA4971703	317	Y>C		No	ClinGen ExAC gnomAD
rs758780829 CA4971702	317	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA372821329 rs1480230972	318	C>W		No	ClinGen TOPMed gnomAD
rs1338813094 CA372821332 COSM179108	319	D>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA372821367 rs1466155785	321	P>A		No	ClinGen gnomAD
CA372821373 rs1317349825	321	P>L		No	ClinGen TOPMed
rs1202932780 CA372821374	322	N>H		No	ClinGen TOPMed gnomAD
rs956031369 CA188413188	322	N>I		No	ClinGen TOPMed
rs757707203 CA4971705	322	N>K		No	ClinGen ExAC gnomAD
CA372821384 rs956031369	322	N>S		No	ClinGen TOPMed
CA372821393 rs1402274814	323	I>V		No	ClinGen TOPMed
rs139103117 CA4971706	324	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162620687 CA372821434	326	V>F		No	ClinGen TOPMed
CA4971708 rs769401778	327	S>I		No	ClinGen ExAC TOPMed gnomAD
CA188413213 rs769401778	327	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4971709 rs779483839	331	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1183725942 CA372821572	334	E>D		No	ClinGen TOPMed
rs748854741 CA4971710	335	G>D		No	ClinGen ExAC gnomAD
rs748854741 CA4971711	335	G>V		No	ClinGen ExAC gnomAD
CA160192 rs149683525 RCV000121251	337	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149683525 CA372821605	337	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449120929 CA372821657	339	S>R		No	ClinGen TOPMed
rs1306690752 CA372821652	339	S>T		No	ClinGen TOPMed gnomAD
CA4971713 rs771912975	340	R>*		No	ClinGen ExAC TOPMed gnomAD
CA372821658 rs771912975	340	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776830350 CA4971715	340	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776830350 CA4971714 COSM88204	340	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201555803 CA188413255	341	V>A		No	ClinGen Ensembl
CA372821676 rs1294030432	341	V>I		No	ClinGen TOPMed
rs765518857 CA4971716	343	T>I		No	ClinGen ExAC gnomAD
rs765518857 CA188413261	343	T>N		No	ClinGen ExAC gnomAD
rs1364986464 CA372821751	345	H>Y		No	ClinGen gnomAD
rs55667734 VAR_041718 CA188413286	346	K>R		No	ClinGen UniProt Ensembl dbSNP
CA372821830 rs1246893936	348	D>H		No	ClinGen TOPMed
rs752677556 CA4971717	349	G>A		No	ClinGen ExAC gnomAD
rs1341690031 CA372821905	351	N>Y		No	ClinGen TOPMed
rs1225613568 CA372821955	352	L>R		No	ClinGen gnomAD
rs756508527 CA4971742	353	E>D		No	ClinGen ExAC gnomAD
rs371907546 CA372823429	354	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371907546 CA4971743	354	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4971744 rs753586590	355	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1282324330 CA372823469	356	L>H		No	ClinGen gnomAD
rs999268376 CA188420142	358	S>L		No	ClinGen TOPMed
rs1331900551 CA372823507	359	L>I		No	ClinGen TOPMed gnomAD
CA372823526 rs1375478515	360	R>K		No	ClinGen gnomAD
CA372823580 rs1563969682	363	L>F		No	ClinGen Ensembl
CA4971745 rs140973912	365	F>L		No	ClinGen ESP ExAC gnomAD
CA4971747 rs375678155	366	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372823607 rs375678155	366	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4971748 rs375678155	366	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA372823618 rs1328674513	367	S>P		No	ClinGen gnomAD
rs1207058237 CA372823655	370	D>G		No	ClinGen gnomAD
rs368268750 CA4971750	373	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs55953208 CA188420169 VAR_041719	377	A>E		No	ClinGen UniProt TOPMed dbSNP
rs55953208 CA372823733	377	A>V		No	ClinGen TOPMed
rs775566659 CA4971752	379	A>V		No	ClinGen ExAC gnomAD
rs774526479 CA4971755	381	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA372823791 rs1586728836	382	Y>S		No	ClinGen Ensembl
CA4971756 rs143124074	383	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372823815 rs1344339697	384	C>S		No	ClinGen gnomAD
rs1250998599 CA372823823	385	K>E		No	ClinGen TOPMed
CA372823846 rs1456031294	386	E>D		No	ClinGen TOPMed gnomAD
rs1456031294 CA372823848	386	E>D		No	ClinGen TOPMed gnomAD
rs1178111253 CA372823854	387	V>A		No	ClinGen gnomAD
rs1482224390 CA372823865	388	A>E		No	ClinGen TOPMed
rs768074072 CA4971757	390	P>L		No	ClinGen ExAC gnomAD
rs1406407961 CA372823879	390	P>S		No	ClinGen gnomAD
rs773872362 CA4971758	391	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1287727660 CA372823898	392	V>A		No	ClinGen gnomAD
CA188420195 rs200018153	392	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA160198 RCV000891612 RCV000121253 rs200018153	392	V>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2230723 RCV000964504 CA160195 VAR_041720 RCV000121252	393	L>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372823917 rs1285397991	394	E>G		No	ClinGen gnomAD
CA4971760 rs754709426	394	E>Q		No	ClinGen ExAC gnomAD
CA372823945 rs1586728986	396	I>M		No	ClinGen Ensembl
rs1046989645 CA188420205	396	I>T		No	ClinGen TOPMed gnomAD
rs1199883868 CA372823963	398	S>C		No	ClinGen gnomAD
rs1276593502 CA372823968	398	S>I		No	ClinGen gnomAD
rs764899558 CA4971761	400	C>G		No	ClinGen ExAC TOPMed gnomAD
rs764899558 CA4971762	400	C>S		No	ClinGen ExAC TOPMed gnomAD
CA188420219 rs868456341	402	G>D		No	ClinGen Ensembl
CA4971763 rs757917124	405	S>A		No	ClinGen ExAC gnomAD
CA188420228 rs267602253	405	S>L		No	ClinGen TOPMed gnomAD
rs1167451934 CA372824499	406	M>I		No	ClinGen gnomAD
CA4971791 rs140392449	407	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA188421549 rs140392449	407	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA372824523 rs1464457690	410	I>V		No	ClinGen gnomAD
CA372824562 rs1297936959	415	K>T		No	ClinGen gnomAD
rs373528034 CA188421561	416	A>G		No	ClinGen ESP
CA4971795 rs778050966	417	G>D		No	ClinGen ExAC gnomAD
rs190968273 CA4971794	417	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388769008 CA372824576	418	N>Y		No	ClinGen gnomAD
rs1011666024 CA188421589	423	Y>C		No	ClinGen TOPMed
COSM1109351 rs1340580425 CA372824628	426	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs777015472 CA4971798	426	R>Q		No	ClinGen ExAC gnomAD
CA188421614 rs759930872	427	C>*		No	ClinGen ExAC gnomAD
rs1324421598 CA372824631	427	C>R		No	ClinGen TOPMed
CA4971799 rs759930872	427	C>W		No	ClinGen ExAC gnomAD
CA188421640 rs905659568	430	K>E		No	ClinGen TOPMed
rs775088840 CA4971801	431	D>N		No	ClinGen ExAC
rs1208472156 CA372824669	432	F>C		No	ClinGen gnomAD
CA372824683 rs1263357359	434	K>E		No	ClinGen gnomAD
CA372824688 rs1465086393	434	K>N		No	ClinGen TOPMed gnomAD
rs201846579 CA188421653	435	Y>C		No	ClinGen 1000Genomes
CA188421659 rs1001230969	440	A>S		No	ClinGen TOPMed gnomAD
CA372824730 rs1188137836	441	V>I		No	ClinGen gnomAD
CA4971806 rs560489093 COSM1462555	442	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4971805 rs560489093	442	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA372824756 rs1563973123	443	R>*		No	ClinGen Ensembl
CA372824758 rs753648225	443	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753648225 CA4971827	443	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1351460850 CA372824768	445	N>D		No	ClinGen gnomAD
CA4971828 rs754833218	445	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4971829 rs764362884	446	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764362884 CA372824778	446	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1210136599 CA372824809	450	K>N		No	ClinGen gnomAD
rs757327746 CA4971832	452	C>F		No	ClinGen ExAC gnomAD
rs907951717 CA188423293	455	T>I		No	ClinGen TOPMed
CA4971834 rs745966628	458	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1252513666 CA372824860	458	E>K		No	ClinGen gnomAD
CA4971836 rs147052515	460	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs749599613 CA4971837	461	E>D		No	ClinGen ExAC gnomAD
CA372824886 rs1476674498	461	E>G		No	ClinGen TOPMed
rs768963999 CA4971838	463	N>S		No	ClinGen ExAC gnomAD
rs1198180475 CA372824912	465	S>C		No	ClinGen TOPMed
CA372824914 rs1479510780	465	S>T		No	ClinGen TOPMed
CA4971840 rs747796453	467	T>I		No	ClinGen ExAC gnomAD
rs772550238 CA4971843	468	K>N		No	ClinGen ExAC gnomAD
CA4971841 rs771589128	468	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1369199169 CA372824939	469	K>R		No	ClinGen gnomAD
rs1219442270 CA372824962	472	S>N		No	ClinGen gnomAD
CA4971845 rs149595423	472	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309913519 CA372824966	473	S>R		No	ClinGen gnomAD
CA4971848 rs199577021	479	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA188423385 rs932450678	479	N>T		No	ClinGen TOPMed gnomAD
rs62637623 RCV000906396 CA4971850	480	C>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4971851 rs767808355	483	M>I		No	ClinGen ExAC gnomAD
CA372825041 rs1191966886	483	M>K		No	ClinGen TOPMed gnomAD
rs1191966886 CA372825043	483	M>T		No	ClinGen TOPMed gnomAD
CA4971852 rs750433642	484	E>G		No	ClinGen ExAC gnomAD
rs756202734 CA4971853	485	T>A		No	ClinGen ExAC gnomAD
rs764423560 CA4971857	487	R>C		No	ClinGen ExAC gnomAD
CA4971856 rs764423560	487	R>G		No	ClinGen ExAC gnomAD
rs141554173 CA4971858	487	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408825918 CA372825077	488	S>A		No	ClinGen TOPMed
CA372825089 rs1249480394	489	D>A		No	ClinGen Ensembl
rs202047673 CA188423417	490	N>S		No	ClinGen 1000Genomes
CA4971860 rs146394461	491	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770630925 CA4971862	492	I>T		No	ClinGen ExAC gnomAD
rs776678096 CA4971863	493	F>I		No	ClinGen ExAC TOPMed gnomAD
CA372825158 rs1380478368	495	F>L		No	ClinGen gnomAD
rs1412015532 CA372825176	496	T>S		No	ClinGen TOPMed
CA372825195 rs1293919327	498	C>R		No	ClinGen gnomAD
rs759440902 CA4971864	500	P>S		No	ClinGen ExAC gnomAD
CA4971865 rs368359929	503	P>R		No	ClinGen ESP ExAC gnomAD
rs1220590246 CA372825259	503	P>S		No	ClinGen TOPMed gnomAD
rs1220590246 CA372825256	503	P>T		No	ClinGen TOPMed gnomAD
CA372825267 rs1176376771	504	K>E		No	ClinGen TOPMed
CA4971888 rs766611249	508	N>Y		No	ClinGen ExAC gnomAD
CA188423806 rs867553373	510	L>P		No	ClinGen Ensembl
rs949888810 CA188423811	513	R>T		No	ClinGen TOPMed
rs765606878 COSM1462556 CA4971891	514	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs374192423 CA4971892 COSM29092	514	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs765606878 CA372825527	514	T>S		No	ClinGen ExAC gnomAD
CA188423823 rs111279131	515	N>S		No	ClinGen Ensembl
rs1554671762 RCV000660423	516	G>missing		No	ClinVar dbSNP
rs756926755 CA4971896	519	D>G		No	ClinGen ExAC gnomAD
CA4971895 rs551219457	519	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs569230287 CA4971898	521	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs374370951 CA4971897	521	P>S		No	ClinGen ExAC gnomAD
rs1410689533 CA372825575	522	T>I		No	ClinGen gnomAD
rs1049514564 CA188423843	522	T>P		No	ClinGen gnomAD
rs1471406446 CA372825581	523	S>L		No	ClinGen TOPMed gnomAD
rs755710326 CA4971899	525	T>A		No	ClinGen ExAC gnomAD
rs1425240616 CA372825590	525	T>I		No	ClinGen gnomAD
rs1372366676 CA372825614	528	R>S		No	ClinGen gnomAD
CA372825611 rs1332075938	528	R>T		No	ClinGen gnomAD
CA4971901 rs779854534	529	P>H		No	ClinGen ExAC gnomAD
rs779854534 CA4971900	529	P>L		No	ClinGen ExAC gnomAD
rs1347011638 CA372825616	529	P>S		No	ClinGen TOPMed
rs774083801 CA4971903	530	T>I		No	ClinGen ExAC gnomAD
rs747969920 CA4971904	531	H>L		No	ClinGen ExAC gnomAD
CA372825636 rs1218765800	532	M>I		No	ClinGen gnomAD
CA4971906 rs776926630	532	M>R		No	ClinGen ExAC gnomAD
rs796848382 CA188423898	534	Q>E		No	ClinGen Ensembl
rs1017165899 COSM1462562 CA188423901	538	H>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM29093 CA372825682 rs940915789	538	H>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM29093 CA188423904 rs940915789	538	H>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
VAR_032695 rs121912473 CA124185	539	K>L	myeloproliferative disorder with erythrocytosis; requires 2 nucleotide substitutions [UniProt]	No	ClinGen UniProt Ensembl dbSNP
CA188423920 rs1036623812	540	I>F		No	ClinGen Ensembl
rs765396465 CA4971908	541	R>G		No	ClinGen ExAC gnomAD
CA372825721 rs1436488972	544	D>Y		No	ClinGen TOPMed gnomAD
CA188423937 rs901974677	545	L>F		No	ClinGen Ensembl
CA372825730 rs1477386511 COSM30807	545	L>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4971911 rs763504207	547	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4971910 rs775836739 COSM29098	547	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746150275 CA372825938	548	N>K		No	ClinGen ExAC TOPMed gnomAD
rs746150275 CA4971926	548	N>K		No	ClinGen ExAC TOPMed gnomAD
rs937527250 CA188425370	550	S>N		No	ClinGen TOPMed gnomAD
rs896104276 CA188425387	555	T>S		No	ClinGen TOPMed
CA4971930 rs764634461	556	F>V		No	ClinGen ExAC TOPMed gnomAD
CA372825999 rs1269687415	558	K>E		No	ClinGen gnomAD
rs762266020 CA4971932	561	K>E		No	ClinGen ExAC gnomAD
CA188425426 rs895187915 COSM1109353	563	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs368927897 CA372826041 COSM29104	564	R>Q	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
RCV000121239 rs587778408 COSM29105 CA160156	567	V>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs587778408 COSM1462570 CA4971936	567	V>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs552162949 CA4971935	567	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA372826062 rs1486841342	568	G>R		No	ClinGen TOPMed
CA4971938 rs753281669	570	Y>C		No	ClinGen ExAC gnomAD
rs139504737 CA4971940 COSM29107	571	G>S	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA372826093 rs371734553	572	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4971941 rs371734553	572	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372826087 rs1457790403	572	Q>K		No	ClinGen gnomAD
CA372826094 rs1383353466	573	L>M		No	ClinGen gnomAD
CA188425470 rs537878519	574	H>R		No	ClinGen gnomAD
CA4971942 rs758164560	574	H>Y		No	ClinGen ExAC gnomAD
CA4971944 rs746807589	576	T>A		No	ClinGen ExAC TOPMed gnomAD
rs10974946 CA188425473	577	E>K		No	ClinGen Ensembl
CA372826132 rs1289792896	579	L>V		No	ClinGen gnomAD
rs1227170780 CA372826140	580	L>S		No	ClinGen gnomAD
rs780152047 CA4971946	581	K>E		No	ClinGen ExAC gnomAD
rs749364244 CA4971947	581	K>R		No	ClinGen ExAC gnomAD
CA188425482 rs17490221 VAR_043129	584	D>E		No	ClinGen UniProt Ensembl dbSNP
CA188425485 rs996060139	585	K>E		No	ClinGen TOPMed gnomAD
CA4971948 rs768921823	585	K>N		No	ClinGen ExAC gnomAD
rs1184106240 CA372826179	586	A>V		No	ClinGen gnomAD
CA4971949 COSM29113 rs149705816	587	H>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1473044275 CA372826189	588	R>K		No	ClinGen gnomAD
CA372826200 rs1362123436	589	N>K		No	ClinGen TOPMed gnomAD
CA372826202 rs1025841014	590	Y>H		No	ClinGen TOPMed gnomAD
rs1025841014 CA188425494	590	Y>N		No	ClinGen TOPMed gnomAD
CA372826211 rs1467694216	591	S>A		No	ClinGen gnomAD
rs1368235418 CA372826406	593	S>F		No	ClinGen gnomAD
rs772567838 CA4971971	593	S>T		No	ClinGen ExAC gnomAD
CA4971973 rs761091401	595	F>L		No	ClinGen ExAC gnomAD
rs1313389637 CA372826458	598	A>T		No	ClinGen gnomAD
rs1586742042 CA372826483	600	M>V		No	ClinGen Ensembl
rs1341162253 CA372826508	601	M>I		No	ClinGen gnomAD
CA372826515 rs1563977787	602	S>I		No	ClinGen Ensembl
CA4971974 rs771269665	603	K>N		No	ClinGen ExAC gnomAD
CA4971975 COSM29116 rs145561071	606	H>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1192059127 CA372826587	608	H>Q		No	ClinGen TOPMed gnomAD
rs1489598500 CA372826583	608	H>R		No	ClinGen TOPMed gnomAD
rs976074606 CA188431098	610	V>I		No	ClinGen gnomAD
rs976074606 CA372826604	610	V>L		No	ClinGen gnomAD
CA372826683 rs1412833866	618	C>S		No	ClinGen TOPMed
CA372826687 rs1236645682	619	G>R		No	ClinGen gnomAD
rs1168791735 CA372826700	621	E>K		No	ClinGen gnomAD
rs776937429 CA372826737	624	L>M		No	ClinGen ExAC TOPMed gnomAD
CA372826738 rs776937429	624	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775180963 CA4972000	630	K>N		No	ClinGen ExAC gnomAD
rs1446557297 CA372826834	638	L>V		No	ClinGen gnomAD
rs546350643 CA4972003	639	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs867162646 CA188433962	640	K>R		No	ClinGen Ensembl
CA188433963 rs900318689	641	N>K		No	ClinGen TOPMed
rs761609145 CA4972004	642	K>N		No	ClinGen ExAC TOPMed gnomAD
rs750176634 CA4972006	644	C>Y		No	ClinGen ExAC gnomAD
CA4972007 rs755989986	645	I>T		No	ClinGen ExAC gnomAD
COSM29122 CA372826882 rs1326284223	645	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs765546535 CA4972008	646	N>H		No	ClinGen ExAC gnomAD
COSM3699704 rs758475474 CA4972010	647	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771530862 CA188433991	649	W>R		No	ClinGen ExAC gnomAD
CA4972011 rs771530862	649	W>R		No	ClinGen ExAC gnomAD
rs1401905092 CA372826919	650	K>I		No	ClinGen TOPMed
CA372826923 rs1178089669	651	L>V		No	ClinGen gnomAD
rs1478094766 CA372826929	652	E>Q		No	ClinGen gnomAD
CA372826981 rs1413875441	659	W>L		No	ClinGen TOPMed gnomAD
rs532307142 CA4972012	659	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372826980 rs1413875441	659	W>S		No	ClinGen TOPMed gnomAD
CA4972013 rs757690445	660	A>T		No	ClinGen ExAC gnomAD
CA4972014 rs781669824	660	A>V		No	ClinGen ExAC TOPMed gnomAD
CA372826995 rs1280410041	661	M>I		No	ClinGen gnomAD
CA372827062 rs747652188	669	L>F		No	ClinGen ExAC gnomAD
CA4972040 rs747652188	669	L>V		No	ClinGen ExAC gnomAD
rs771779649 CA4972041	670	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372827074 rs1181933181	671	H>R		No	ClinGen TOPMed
RCV000121240 CA160159 rs587778409	671	H>Y		No	ClinGen ClinVar TOPMed dbSNP
rs1337922027 CA372827079	672	G>R		No	ClinGen gnomAD
rs1487709003 CA372827089	673	N>S		No	ClinGen TOPMed
CA188434681 rs923941004	674	V>A		No	ClinGen Ensembl
CA372827106 rs1273471332	676	A>T		No	ClinGen TOPMed gnomAD
rs1586749269 CA372827171	685	E>D		No	ClinGen Ensembl
rs377075634 CA188434691	687	R>W		No	ClinGen ESP
CA372827203 rs925859072	690	G>A		No	ClinGen TOPMed gnomAD
CA188434700 rs925859072	690	G>E		No	ClinGen TOPMed gnomAD
CA4972045 rs151160183	691	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972046 rs776219478	691	N>S		No	ClinGen ExAC gnomAD
rs1418871645 CA372827218	693	P>A		No	ClinGen gnomAD
rs1339159756 CA372827229	694	F>L		No	ClinGen TOPMed
rs1055449099 CA188434709	694	F>V		No	ClinGen TOPMed
rs1460930373 CA372827238	696	K>Q		No	ClinGen gnomAD
rs764206046 CA4972048	702	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372827323 rs751875095	705	T>I		No	ClinGen ExAC TOPMed gnomAD
rs751875095 CA4972049	705	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1210614513 CA372827502	711	I>S		No	ClinGen gnomAD
CA372827522 rs754439704	713	Q>P		No	ClinGen ExAC gnomAD
rs754439704 CA4972072	713	Q>R		No	ClinGen ExAC gnomAD
rs1293164723 CA372827534	714	E>G		No	ClinGen TOPMed
CA372827529 rs1258825984	714	E>Q		No	ClinGen gnomAD
CA4972073 rs755271287	715	R>G		No	ClinGen ExAC gnomAD
rs1211584359 CA372827547	715	R>K		No	ClinGen gnomAD
CA372827550 rs1383778587	715	R>S		No	ClinGen TOPMed
rs1000354224 CA188435985	716	I>M		No	ClinGen Ensembl
CA372827587 rs765685138	719	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765685138 CA4972074	719	V>L		No	ClinGen ExAC TOPMed gnomAD
CA372827625 rs1563983307 RCV000762550	723	C>S		No	ClinGen ClinVar Ensembl dbSNP
rs372254348 RCV000121241 CA160162	724	I>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1325202393 CA372827641	724	I>V		No	ClinGen TOPMed
CA4972075 rs758054771	726	N>S		No	ClinGen ExAC gnomAD
rs758054771 CA372827670	726	N>T		No	ClinGen ExAC gnomAD
rs1563983335 CA372827709	729	N>K		No	ClinGen Ensembl
CA4972076 rs777579876	730	L>I		No	ClinGen ExAC TOPMed gnomAD
CA372827713 rs777579876	730	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4972078 rs145273013	732	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972077 rs541076696	732	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs113230874 CA188435991	732	L>V		No	ClinGen Ensembl
rs769639228 CA4972081	733	A>E		No	ClinGen ExAC gnomAD
rs375201828 CA4972080	733	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972082 rs775223996	734	T>A		No	ClinGen ExAC
CA372827815 rs1375184129	739	F>V		No	ClinGen TOPMed gnomAD
CA188436004 rs368219482	740	G>D		No	ClinGen ESP gnomAD
rs761834686 CA188436011	741	T>I		No	ClinGen Ensembl
CA188436015 rs931143141	742	T>S		No	ClinGen TOPMed
CA372827858 rs1396777828	743	L>*		No	ClinGen gnomAD
rs749087363 CA4972083	746	I>V		No	ClinGen ExAC TOPMed gnomAD
rs559874838 CA4972084	747	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA372827950 rs1234894762	751	D>N		No	ClinGen gnomAD
CA372827984 rs1470917072	753	P>L		No	ClinGen gnomAD
CA372827994 rs1302643316	755	S>G		No	ClinGen gnomAD
rs760667430 CA372828003	755	S>R		No	ClinGen ExAC TOPMed gnomAD
rs760667430 CA4972086	755	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4972087 rs766524586	759	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA372828065 rs1253223051	761	R>I		No	ClinGen gnomAD
COSM235741 CA4972119 rs199661171	764	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA372828185 rs1432802028	768	D>H		No	ClinGen gnomAD
CA372828192 rs1289411223	769	R>G		No	ClinGen gnomAD
CA4972121 rs755639338	771	Q>R		No	ClinGen ExAC gnomAD
rs1409981867 CA372828231	774	A>V		No	ClinGen TOPMed
CA372828233 rs1337247004	775	P>A		No	ClinGen gnomAD
CA188436272 rs972160540	775	P>L		No	ClinGen TOPMed gnomAD
rs1272625102 CA372828238	776	K>E		No	ClinGen gnomAD
rs753814826 CA4972123	777	W>C		No	ClinGen ExAC gnomAD
rs754748672 CA4972124	778	A>T		No	ClinGen ExAC gnomAD
rs778634399 CA372828285	782	N>K		No	ClinGen ExAC gnomAD
rs1586752899 CA372828290	783	L>H		No	ClinGen Ensembl
rs1259107806 CA372828294	784	I>V		No	ClinGen gnomAD
rs1433297798 CA372828309	786	N>D		No	ClinGen TOPMed
rs747928693 CA4972126	787	C>S		No	ClinGen ExAC gnomAD
CA372828318 rs1163843747	787	C>Y		No	ClinGen gnomAD
rs201747929 CA188436296	789	D>E		No	ClinGen Ensembl
CA372828334 rs1414977743	789	D>Y		No	ClinGen gnomAD
CA188436301 rs147644681	792	P>A		No	ClinGen ESP gnomAD
CA188436310 rs1046161907	792	P>L		No	ClinGen gnomAD
CA188436305 rs147644681	792	P>S		No	ClinGen ESP gnomAD
rs376608371 CA4972127	793	D>G		No	ClinGen ESP ExAC TOPMed
rs757603183 CA188436312	793	D>H		No	ClinGen Ensembl
CA188436324 rs561801024	794	F>S		No	ClinGen Ensembl
CA4972130 rs201992086	797	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972129 rs528871831	797	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs147029930 CA188436357	800	A>G		No	ClinGen ESP TOPMed
rs763504151 CA4972132	801	I>S		No	ClinGen ExAC gnomAD
CA4972133 rs769318116	803	R>*		No	ClinGen ExAC TOPMed gnomAD
CA372828422 rs774709145	803	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4972134 rs774709145	803	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369815812 CA4972136	805	L>P		No	ClinGen ESP ExAC gnomAD
rs1242280983 CA372828448	807	S>N		No	ClinGen Ensembl
COSM1187686 CA4972138 rs760148809	808	L>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1348456242 CA372828471	810	T>S		No	ClinGen TOPMed
rs765923672 CA4972139	811	P>T		No	ClinGen ExAC TOPMed gnomAD
rs932690342 CA188437278	814	E>*		No	ClinGen Ensembl
rs752612217 CA4972162	821	M>I		No	ClinGen ExAC gnomAD
rs1370354879 CA372828571	823	P>A		No	ClinGen TOPMed
rs1411863328 CA372828587	825	M>K		No	ClinGen gnomAD
CA372828588 rs1411863328	825	M>R		No	ClinGen gnomAD
rs377400885 CA4972163	826	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972165 rs763745031	826	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1444681434 CA372828602	827	I>T		No	ClinGen gnomAD
rs1233946002 CA372828609	828	G>A		No	ClinGen TOPMed gnomAD
CA372828608 rs1233946002	828	G>D		No	ClinGen TOPMed gnomAD
CA372828605 rs1372361863	828	G>S		No	ClinGen gnomAD
CA372828610 rs1233946002	828	G>V		No	ClinGen TOPMed gnomAD
CA4972167 rs780436609	829	A>D		No	ClinGen ExAC gnomAD
CA188437354 rs909362393	830	L>P		No	ClinGen TOPMed
rs138340828 CA188437343	830	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs938780847 CA188437364	831	G>E		No	ClinGen Ensembl
rs370736292 CA4972170	834	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456040406 CA372828655	836	F>L		No	ClinGen gnomAD
CA4972171 rs748653515	838	D>E		No	ClinGen ExAC gnomAD
CA4972172 rs373353534	839	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747381013 CA188437389	839	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747381013 CA4972174	839	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4972173 rs373353534	839	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196752953 CA372828691	842	T>R		No	ClinGen gnomAD
rs770516976 CA4972175	843	Q>P		No	ClinGen ExAC gnomAD
rs368688124 CA4972176	844	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230493711 CA372828715	846	E>*		No	ClinGen TOPMed
RCV000121242 CA160165 rs150221602	846	E>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA372828724 rs1464065307	847	R>K		No	ClinGen gnomAD
CA372828762 rs1167204576	852	L>Q		No	ClinGen gnomAD
CA188437423 rs867892582	853	Q>K		No	ClinGen Ensembl
rs764700283 CA372828798	857	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1200952670 CA372828794	857	K>Q		No	ClinGen gnomAD
CA372828874 rs1351324295	866	C>Y		No	ClinGen gnomAD
CA188444361 rs768465183	867	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1486560342 COSM303856 CA372828879	867	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs768465183 CA4972201	867	R>W		No	ClinGen ExAC TOPMed gnomAD
CA372828886 rs1258530564	868	Y>C		No	ClinGen gnomAD
rs1238259359 CA372828896	869	D>E		No	ClinGen TOPMed
CA4972202 rs774495851	870	P>S		No	ClinGen ExAC gnomAD
rs1185527879 CA372828910	872	Q>*		No	ClinGen gnomAD
rs1470797174 CA372828933	875	T>A		No	ClinGen gnomAD
rs1057520016 CA372828935	875	T>I		No	ClinGen gnomAD
CA372828955 rs1436995415	878	V>A		No	ClinGen TOPMed gnomAD
CA188444404 rs201963673	883	K>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA4972206 rs146383885	885	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs572395683 CA4972207	886	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1450927516 CA372829010	887	S>R		No	ClinGen TOPMed
rs1287722546 CA372829022	888	T>S		No	ClinGen TOPMed
CA372829020 rs1426814242	888	T>S		No	ClinGen gnomAD
rs1050768948 CA188444433	890	E>D		No	ClinGen gnomAD
rs368599778 CA4972210	890	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs202237966 CA4972209	890	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000977409 rs201551707 CA4972211	892	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM327225 rs757780497 CA4972212	894	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA372829071 rs1431982074	896	E>K		No	ClinGen TOPMed
rs1023699005 CA188444475	897	R>K		No	ClinGen TOPMed
rs200282557 CA188444486	899	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200282557 CA4972216	899	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4972215 rs769270697	899	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780938232 CA4972221	900	E>*		No	ClinGen ExAC TOPMed gnomAD
rs780938232 CA4972220	900	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1396534429 CA372829128	904	S>F		No	ClinGen gnomAD
CA372829130 rs1329148344	905	L>V		No	ClinGen TOPMed gnomAD
rs1294553893 CA372829136	906	Q>*		No	ClinGen gnomAD
CA4972228 rs138470455	906	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253319122 CA372829179	912	K>E		No	ClinGen gnomAD
CA372829210 rs1198094198	916	V>L		No	ClinGen gnomAD
rs773078489 CA4972230	919	S>C		No	ClinGen ExAC gnomAD
rs773078489 CA4972231	919	S>G		No	ClinGen ExAC gnomAD
rs764302764 CA4972257	922	R>G		No	ClinGen ExAC TOPMed gnomAD
rs888369460 CA188445077	922	R>Q		No	ClinGen TOPMed gnomAD
CA188445075 rs764302764	922	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774355597 CA4972258	923	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4972259 rs761937412	923	R>H		No	ClinGen ExAC TOPMed gnomAD
CA372829274 rs1161337962	925	L>I		No	ClinGen gnomAD
CA4972261 rs768007778	935	G>R		No	ClinGen ExAC gnomAD
rs750978665 CA4972262	938	R>*		No	ClinGen ExAC gnomAD
CA372829368 rs1346944271	938	R>Q		No	ClinGen gnomAD
CA4972263 rs756412885	941	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4972265 rs754187074	943	K>E		No	ClinGen ExAC gnomAD
rs778723785 CA4972267	945	K>E		No	ClinGen ExAC TOPMed gnomAD
CA188445130 rs778723785	945	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs370705658 CA4972269	947	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs777544455 CA4972270	947	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370705658 CA4972268	947	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs77779115 CA372829452	950	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4972274 rs577992117	951	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4972273 rs541690475	951	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768850629 CA4972275	953	L>I		No	ClinGen ExAC gnomAD
CA4972276 rs774620945	954	L>R		No	ClinGen ExAC gnomAD
rs1417651999 CA372829473	954	L>V		No	ClinGen gnomAD
rs761849366 CA4972277	955	Q>R		No	ClinGen ExAC gnomAD
rs1449110053 CA372829488	956	Y>C		No	ClinGen gnomAD
CA372829484 rs1257909301	956	Y>H		No	ClinGen TOPMed
rs767683708 CA4972278	958	S>C		No	ClinGen ExAC gnomAD
rs1215693396 CA372829510	960	I>L		No	ClinGen TOPMed
rs587778410 CA160168 RCV000121243	961	C>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1276089019 CA372829548	963	G>A		No	ClinGen gnomAD
rs1276089019 CA372829547	963	G>V		No	ClinGen gnomAD
COSM1462584 CA372829551 rs1308704524	964	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs777347106 CA4972305	965	E>K		No	ClinGen ExAC TOPMed gnomAD
CA188445401 rs1029260656	968	G>R		No	ClinGen TOPMed gnomAD
CA372829629 rs1253373055	975	R>G		No	ClinGen TOPMed gnomAD
rs1423328208 CA372829649	978	A>S		No	ClinGen gnomAD
rs1443056014 CA372829660	979	T>M		No	ClinGen Ensembl
rs1586772722 CA372829677	982	I>V		No	ClinGen Ensembl
rs1586772729 CA372829700	985	E>G		No	ClinGen Ensembl
CA372829704 rs1344923928	986	N>H		No	ClinGen TOPMed
CA188445433 rs55873896	986	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55873896 CA4972312	986	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs550229414 CA4972314	987	E>K		No	ClinGen ExAC TOPMed gnomAD
rs550229414 CA4972313	987	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs370131729 CA372829722	988	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370131729 CA4972315	988	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA372829803 rs1170872706	1000	V>D		No	ClinGen TOPMed
CA188445448 rs866513093	1001	L>S		No	ClinGen Ensembl
CA4972319 rs777916929	1002	P>S		No	ClinGen ExAC gnomAD
CA4972320 rs747109848	1003	Q>R		No	ClinGen ExAC gnomAD
rs1422815800 CA372829846	1006	E>D		No	ClinGen TOPMed
CA4972321 rs770959126	1010	V>E		No	ClinGen ExAC gnomAD
CA372829892 rs1454681409	1012	E>D		No	ClinGen TOPMed
CA372829894 rs774138621	1013	P>A		No	ClinGen gnomAD
CA372829896 rs777259241	1013	P>L		No	ClinGen ExAC gnomAD
CA4972322 rs777259241	1013	P>R		No	ClinGen ExAC gnomAD
CA188445468 rs774138621	1013	P>S		No	ClinGen gnomAD
CA372829919 rs1196495538	1017	P>T		No	ClinGen gnomAD
rs1358248922 CA372829958	1020	W>C		No	ClinGen gnomAD
CA188445591 rs199942090	1021	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199942090 CA4972342	1021	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749631485 CA4972343	1022	A>G		No	ClinGen ExAC gnomAD
CA4972345 rs774801005	1026	L>M		No	ClinGen ExAC TOPMed gnomAD
CA372829991 rs774801005	1026	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4972347 rs767187880	1027	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4972348 rs772659940	1028	E>D		No	ClinGen ExAC gnomAD
rs766271417 CA4972350	1030	K>R		No	ClinGen ExAC gnomAD
rs754785038 CA4972352	1032	S>C		No	ClinGen ExAC gnomAD
rs1006182223 CA188445641	1033	V>M		No	ClinGen TOPMed gnomAD
rs1240580484 CA372830060	1037	V>I		No	ClinGen gnomAD
rs1440642433 CA372830089	1040	F>L		No	ClinGen gnomAD
CA4972353 rs764878388	1041	G>A		No	ClinGen ExAC gnomAD
rs752536965 CA4972354	1045	Y>H		No	ClinGen ExAC gnomAD
CA4972355 rs757508742	1047	L>I		No	ClinGen ExAC TOPMed gnomAD
rs745914121 CA4972357	1050	Y>C		No	ClinGen ExAC gnomAD
rs781617920 CA4972356	1050	Y>H		No	ClinGen ExAC gnomAD
CA372830153 rs1007272721	1051	I>L		No	ClinGen TOPMed
rs375671491 CA4972359	1051	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007272721 CA188445703	1051	I>V		No	ClinGen TOPMed
rs142094756 CA4972361	1053	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488257983 CA372830174	1054	S>G		No	ClinGen TOPMed
rs774539976 CA4972362	1055	K>E		No	ClinGen ExAC TOPMed gnomAD
CA372830185 rs1349849518	1055	K>R		No	ClinGen TOPMed gnomAD
rs748566741 CA4972363	1056	S>T		No	ClinGen ExAC gnomAD
rs771690089 CA4972364	1057	P>Q		No	ClinGen ExAC gnomAD
CA4972365 rs772889316	1059	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4972390 rs746602942	1063	R>C		No	ClinGen ExAC TOPMed gnomAD
rs41316003 RCV000892279 RCV000121244 CA160171 VAR_041721	1063	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs41316003 CA372830249	1063	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372830257 rs1168371792	1064	M>I		No	ClinGen gnomAD
rs139127951 CA372830270	1066	G>A		No	ClinGen ESP ExAC gnomAD
rs139127951 CA4972391	1066	G>D		No	ClinGen ESP ExAC gnomAD
rs1282036214 CA372830277	1067	N>S		No	ClinGen TOPMed
rs1564029535 CA372830281	1068	D>H		No	ClinGen Ensembl
rs1403668190 CA372830317	1072	Q>H		No	ClinGen TOPMed gnomAD
CA4972394 rs775568041	1075	V>L		No	ClinGen ExAC gnomAD
CA372830335 rs775568041	1075	V>M		No	ClinGen ExAC gnomAD
CA372830346 rs1403308993	1076	F>L		No	ClinGen gnomAD
rs112745035 CA188448804	1077	H>R		No	ClinGen gnomAD
CA4972395 rs762830653	1077	H>Y		No	ClinGen ExAC gnomAD
CA372830362 rs1450024814	1079	I>V		No	ClinGen TOPMed
rs922123026 CA188448807	1080	E>K		No	ClinGen gnomAD
CA4972398 rs377212884	1081	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA372830375 rs377212884	1081	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4972401 rs755123387	1083	K>N		No	ClinGen ExAC gnomAD
CA188448867 rs140219534	1084	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4972403 rs753258906	1085	N>D		No	ClinGen ExAC gnomAD
CA4972404 rs371455894	1085	N>S		No	ClinGen ESP ExAC gnomAD
CA4972405 rs778041476	1086	G>E		No	ClinGen ExAC gnomAD
CA188448905 rs3925597	1087	R>*		No	ClinGen Ensembl
CA4972407 rs770472387	1089	P>S		No	ClinGen ExAC gnomAD
CA4972408 rs780942191	1090	R>K		No	ClinGen ExAC TOPMed gnomAD
CA188448930 rs780942191	1090	R>T		No	ClinGen ExAC TOPMed gnomAD
rs145217075 CA4972409	1093	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA372830465 rs1188232478	1095	P>Q		No	ClinGen Ensembl
RCV000121245 RCV000880871 rs62637626 CA160174	1096	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372830475 rs1183052571	1097	E>K		No	ClinGen TOPMed
rs1409032625 CA372830506	1099	Y>C		No	ClinGen gnomAD
CA372830520 rs1353496335	1101	I>V		No	ClinGen gnomAD
CA4972427 rs745469565	1103	T>I		No	ClinGen ExAC gnomAD
CA372830598 rs1260770215	1111	N>S		No	ClinGen gnomAD
rs748829715 CA4972429	1112	Q>E		No	ClinGen ExAC gnomAD
rs774469142 CA4972431	1113	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1437629509 CA372830611	1113	R>H		No	ClinGen TOPMed gnomAD
rs571063715 CA4972432	1115	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771958824 CA4972433	1117	R>K		No	ClinGen ExAC gnomAD
rs1586848657 CA372830637	1117	R>S		No	ClinGen Ensembl
rs772893666 CA4972434	1118	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4972436 rs765405912	1121	L>I		No	ClinGen ExAC gnomAD
rs775495966 CA4972437	1122	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1462587 CA372830664 rs775495966	1122	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA188449256 rs1049161279	1123	V>G		No	ClinGen Ensembl
rs1376571158 CA372830666	1123	V>M		No	ClinGen gnomAD
CA372830674 rs1367851065	1124	D>A		No	ClinGen gnomAD
rs1276191362 CA372830672	1124	D>H		No	ClinGen gnomAD
CA372830689 rs1479478620	1126	I>V		No	ClinGen TOPMed
rs767857851 CA4972442	1127	R>M		No	ClinGen ExAC
COSM1462589 rs377006096 CA4972443	1128	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1257354847 CA372830709	1129	N>Y		No	ClinGen gnomAD
rs927218802 CA188449291	1130	M>I		No	ClinGen TOPMed
CA372830727 rs1564029998	1131	A>V		No	ClinGen Ensembl
CA4972446 rs779902555	1132	G>E		No	ClinGen ExAC
rs1282965339 CA372830737	1133	G>S		No	ClinGen TOPMed

6 associated diseases with O60674

[MIM: 600880]: Budd-Chiari syndrome (BDCHS)

A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. {ECO:0000269|PubMed:16707754}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 263300]: Polycythemia vera (PV)

A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. {ECO:0000269|PubMed:15781101, ECO:0000269|PubMed:15793561, ECO:0000269|PubMed:15858187, ECO:0000269|PubMed:16603627}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614521]: Thrombocythemia 3 (THCYT3)

A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. {ECO:0000269|PubMed:16325696, ECO:0000269|PubMed:22397670}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 254450]: Myelofibrosis (MYELOF)

A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:16247455}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. {ECO:0000269|PubMed:16707754}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. {ECO:0000269|PubMed:15781101, ECO:0000269|PubMed:15793561, ECO:0000269|PubMed:15858187, ECO:0000269|PubMed:16603627}. Note=The disease is caused by variants affecting the gene represented in this entry.
A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. {ECO:0000269|PubMed:16325696, ECO:0000269|PubMed:22397670}. Note=The disease may be caused by variants affecting the gene represented in this entry.
A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. Note=The disease is caused by variants affecting the gene represented in this entry.
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:16247455}. Note=The disease is caused by variants affecting the gene represented in this entry.

19 regional properties for O60674

Type	Name	Position	InterPro Accession
domain	FERM domain	37 - 380	IPR000299
domain	Protein kinase domain	545 - 809	IPR000719-1
domain	Protein kinase domain	849 - 1126	IPR000719-2
domain	SH2 domain	397 - 487	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	546 - 805	IPR001245-1
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	849 - 1120	IPR001245-2
active_site	Tyrosine-protein kinase, active site	972 - 984	IPR008266
binding_site	Protein kinase, ATP binding site	855 - 883	IPR017441
domain	FERM central domain	152 - 261	IPR019748
domain	Band 4.1 domain	33 - 270	IPR019749
domain	Tyrosine-protein kinase, catalytic domain	545 - 805	IPR020635-1
domain	Tyrosine-protein kinase, catalytic domain	849 - 1123	IPR020635-2
domain	Janus kinase 2, pseudokinase domain	545 - 806	IPR035588
domain	Janus kinase 2, catalytic domain	844 - 1127	IPR035589
domain	Tyrosine-protein kinase JAK2, SH2 domain	386 - 482	IPR035860
domain	JAK2, FERM domain C-lobe	266 - 386	IPR037838
domain	JAK, FERM F2 lobe domain	143 - 261	IPR041046
domain	FERM F1 lobe ubiquitin-like domain	39 - 134	IPR041155
domain	JAK1-3/TYK2, pleckstrin homology-like domain	302 - 381	IPR041381

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Endomembrane system ; Peripheral membrane protein Cytoplasm Nucleus
PANTHER Family	PTHR45807	TYROSINE-PROTEIN KINASE HOPSCOTCH
PANTHER Subfamily	PTHR45807:SF1	TYROSINE-PROTEIN KINASE JAK2
PANTHER Protein Class	non-receptor tyrosine protein kinase
PANTHER Pathway Category	CCKR signaling map JAK2 PI3 kinase pathway JAK Interferon-gamma signaling pathway Jak2 PDGF signaling pathway Jak Inflammation mediated by chemokine and cytokine signaling pathway JAK JAK/STAT signaling pathway Jak

15 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome lumen	The volume enclosed by the membrane of an endosome.
euchromatin	A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
granulocyte macrophage colony-stimulating factor receptor complex	The heterodimeric receptor for granulocyte macrophage colony-stimulating factor.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse	The part of a synapse that is part of the post-synaptic cell.

21 GO annotations of molecular function

Name	Definition
acetylcholine receptor binding	Binding to an acetylcholine receptor.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
growth hormone receptor binding	Binding to a growth hormone receptor.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
histone kinase activity (H3-Y41 specific)	Catalysis of the transfer of a phosphate group to the tyrosine-41 residue of histone H3.
identical protein binding	Binding to an identical protein or proteins.
insulin receptor substrate binding	Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex.
interleukin-12 receptor binding	Binding to an interleukin-12 receptor.
metal ion binding	Binding to a metal ion.
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
peptide hormone receptor binding	Binding to a receptor for a peptide hormone.
phosphatidylinositol 3-kinase binding	Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
type 1 angiotensin receptor binding	Binding to a type 1 angiotensin receptor.

96 GO annotations of biological process

Name	Definition
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	Any process that initiates the activity of an inactive cysteine-type endopeptidase involved in the apoptotic signaling pathway.
activation of Janus kinase activity	The process of introducing a phosphate group to a tyrosine residue of a JAK (Janus Activated Kinase) protein, thereby activating it.
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
axon regeneration	The regrowth of axons following their loss or damage.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to dexamethasone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.
cellular response to interleukin-3	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-3 stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
collagen-activated signaling pathway	The series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
enzyme linked receptor protein signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with the regulation of a downstream cellular process, e.g. transcription.
erythrocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
extrinsic apoptotic signaling pathway	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
granulocyte-macrophage colony-stimulating factor signaling pathway	The series of molecular signals initiated by the binding of the cytokine granulocyte macrophage colony-stimulating factor (GM-CSF) to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. GM-CSF binds to a heterodimer receptor (CSF2R) consisting of an alpha ligand-binding subunit, and a common beta subunit that is shared with other cytokine receptors.
growth hormone receptor signaling pathway	The series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand.
growth hormone receptor signaling pathway via JAK-STAT	The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes.
histone H3-Y41 phosphorylation	OBSOLETE. The modification of histone H3 by the addition of a phosphate group to a tyrosine residue at position 41 of the histone.
interferon-gamma-mediated signaling pathway	The series of molecular signals initiated by interferon-gamma binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon gamma is the only member of the type II interferon found so far.
interleukin-12-mediated signaling pathway	The series of molecular signals initiated by interleukin-12 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-35-mediated signaling pathway	The series of molecular signals initiated by interleukin-35 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-6-mediated signaling pathway	The series of molecular signals initiated by interleukin-6 binding to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
intrinsic apoptotic signaling pathway in response to oxidative stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered.
mammary gland epithelium development	The process whose specific outcome is the progression of the mammary gland epithelium over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
mesoderm development	The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.
microglial cell activation	The change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
mineralocorticoid receptor signaling pathway	The series of molecular signals initiated by mineralocorticoid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
negative regulation of cardiac muscle cell apoptotic process	Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
negative regulation of DNA binding	Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
negative regulation of heart contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell-substrate adhesion	Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.
positive regulation of cold-induced thermogenesis	Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of epithelial cell apoptotic process	Any process that activates or increases the frequency, rate or extent of epithelial cell apoptotic process.
positive regulation of growth factor dependent skeletal muscle satellite cell proliferation	Any process that activates or increases the frequency, rate or extent of satellite cell proliferation; dependent on specific growth factor activity such as fibroblast growth factors and transforming growth factor beta.
positive regulation of growth hormone receptor signaling pathway	Any process that increases the rate, frequency or extent of the growth hormone receptor signaling pathway. The growth hormone receptor signaling pathway is the series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of insulin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
positive regulation of leukocyte proliferation	Any process that activates or increases the frequency, rate or extent of leukocyte proliferation.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of MHC class II biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of MHC class II.
positive regulation of natural killer cell proliferation	Any process that activates or increases the frequency, rate or extent of natural killer cell proliferation.
positive regulation of nitric oxide biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
positive regulation of nitric-oxide synthase biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a nitric oxide synthase enzyme.
positive regulation of NK T cell proliferation	Any process that activates or increases the frequency, rate or extent of natural killer T cell proliferation.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of phosphoprotein phosphatase activity	Any process that activates or increases the activity of a phosphoprotein phosphatase.
positive regulation of platelet activation	Any process that increases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue.
positive regulation of platelet aggregation	Any process that activates or increases the frequency, rate or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules.
positive regulation of protein import into nucleus	Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus.
positive regulation of receptor signaling pathway via JAK-STAT	Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity.
positive regulation of signaling receptor activity	Any process that activates or increases the frequency, rate or extent of signaling receptor activity.
positive regulation of SMAD protein signal transduction	Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of T cell proliferation	Any process that activates or increases the rate or extent of T cell proliferation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive regulation of tyrosine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
positive regulation of vascular associated smooth muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation.
post-embryonic hemopoiesis	The stages of blood cell formation that take place after completion of embryonic development.
postsynapse to nucleus signaling pathway	The series of molecular signals that conveys information from the postsynapse to the nucleus via cytoskeletal transport of a protein from a postsynapse to the component to the nucleus where it affects biochemical processes that occur in the nucleus (e.g DNA transcription, mRNA splicing, or DNA/histone modifications).
programmed cell death induced by symbiont	Cell death resulting from activation of endogenous cellular processes after interaction with a symbiont (defined as the smaller of two, or more, organisms engaged in symbiosis, a close interaction encompassing mutualism through parasitism). This can be triggered by direct interaction with the organism, for example, contact with penetrating hyphae of a fungus; or an indirect interaction such as symbiont-secreted molecules.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
receptor signaling pathway via JAK-STAT	Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
regulation of nitric oxide biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
regulation of receptor signaling pathway via JAK-STAT	Any process that modulates the frequency, rate or extent of receptor signaling via JAK-STAT.
response to amine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
response to antibiotic	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms.
response to hydroperoxide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroperoxide stimulus. Hydroperoxides are monosubstitution products of hydrogen peroxide, HOOH.
response to interleukin-12	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-12 stimulus.
response to lipopolysaccharide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
response to tumor necrosis factor	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
tumor necrosis factor-mediated signaling pathway	The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
tyrosine phosphorylation of STAT protein	The process of introducing a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.

76 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0JNB0	FYN	Tyrosine-protein kinase Fyn	Bos taurus (Bovine)	SS
Q0VBZ0	CSK	Tyrosine-protein kinase CSK	Bos taurus (Bovine)	SS
Q3ZC95	BTK	Tyrosine-protein kinase	Bos taurus (Bovine)	EV SS
P42683	LCK	Proto-oncogene tyrosine-protein kinase LCK	Gallus gallus (Chicken)	SS
P41239	CSK	Tyrosine-protein kinase CSK	Gallus gallus (Chicken)	SS
P00523	SRC	Proto-oncogene tyrosine-protein kinase Src	Gallus gallus (Chicken)	EV
Q02977	YRK	Proto-oncogene tyrosine-protein kinase Yrk	Gallus gallus (Chicken)	SS
Q8JH64	BTK	Tyrosine-protein kinase BTK	Gallus gallus (Chicken)	SS
P09324	YES1	Tyrosine-protein kinase Yes	Gallus gallus (Chicken)	SS
Q05876	FYN	Tyrosine-protein kinase Fyn	Gallus gallus (Chicken)	SS
Q75R65	JAK2	Tyrosine-protein kinase JAK2	Gallus gallus (Chicken)	SS
P08630	Btk	Tyrosine-protein kinase Btk	Drosophila melanogaster (Fruit fly)	SS
Q9V9J3	Src42A	Tyrosine-protein kinase Src42A	Drosophila melanogaster (Fruit fly)	SS
P00528	Src64B	Tyrosine-protein kinase Src64B	Drosophila melanogaster (Fruit fly)	SS
Q24592	hop	Tyrosine-protein kinase hopscotch	Drosophila melanogaster (Fruit fly)	PR
P41240	CSK	Tyrosine-protein kinase CSK	Homo sapiens (Human)	SS
P51451	BLK	Tyrosine-protein kinase Blk	Homo sapiens (Human)	SS
P06239	LCK	Tyrosine-protein kinase Lck	Homo sapiens (Human)	EV
P06241	FYN	Tyrosine-protein kinase Fyn	Homo sapiens (Human)	SS
P51813	BMX	Cytoplasmic tyrosine-protein kinase BMX	Homo sapiens (Human)	SS
P12931	SRC	Proto-oncogene tyrosine-protein kinase Src	Homo sapiens (Human)	EV
P09769	FGR	Tyrosine-protein kinase Fgr	Homo sapiens (Human)	SS
P42680	TEC	Tyrosine-protein kinase Tec	Homo sapiens (Human)	SS
P42679	MATK	Megakaryocyte-associated tyrosine-protein kinase	Homo sapiens (Human)	SS
Q08881	ITK	Tyrosine-protein kinase ITK/TSK	Homo sapiens (Human)	EV
P07948	LYN	Tyrosine-protein kinase Lyn	Homo sapiens (Human)	SS
Q13882	PTK6	Protein-tyrosine kinase 6	Homo sapiens (Human)	EV
P08631	HCK	Tyrosine-protein kinase HCK	Homo sapiens (Human)	EV
P07947	YES1	Tyrosine-protein kinase Yes	Homo sapiens (Human)	SS
P42685	FRK	Tyrosine-protein kinase FRK	Homo sapiens (Human)	EV
Q06187	BTK	Tyrosine-protein kinase BTK	Homo sapiens (Human)	EV
P23458	JAK1	Tyrosine-protein kinase JAK1	Homo sapiens (Human)	SS
P29597	TYK2	Non-receptor tyrosine-protein kinase TYK2	Homo sapiens (Human)	EV
P52333	JAK3	Tyrosine-protein kinase JAK3	Homo sapiens (Human)	SS
Q9R117	Tyk2	Non-receptor tyrosine-protein kinase TYK2	Mus musculus (Mouse)	SS
P08103	Hck	Tyrosine-protein kinase HCK	Mus musculus (Mouse)	SS
P16277	Blk	Tyrosine-protein kinase Blk	Mus musculus (Mouse)	SS
Q62270	Srms	Tyrosine-protein kinase Srms	Mus musculus (Mouse)	SS
Q64434	Ptk6	Protein-tyrosine kinase 6	Mus musculus (Mouse)	SS
P05480	Src	Proto-oncogene tyrosine-protein kinase Src	Mus musculus (Mouse)	EV
P14234	Fgr	Tyrosine-protein kinase Fgr	Mus musculus (Mouse)	SS
P35991	Btk	Tyrosine-protein kinase BTK	Mus musculus (Mouse)	EV
P41241	Csk	Tyrosine-protein kinase CSK	Mus musculus (Mouse)	EV
P25911	Lyn	Tyrosine-protein kinase Lyn	Mus musculus (Mouse)	EV
Q62137	Jak3	Tyrosine-protein kinase JAK3	Mus musculus (Mouse)	SS
P06240	Lck	Proto-oncogene tyrosine-protein kinase LCK	Mus musculus (Mouse)	SS
P24604	Tec	Tyrosine-protein kinase Tec	Mus musculus (Mouse)	SS
Q04736	Yes1	Tyrosine-protein kinase Yes	Mus musculus (Mouse)	SS
P39688	Fyn	Tyrosine-protein kinase Fyn	Mus musculus (Mouse)	SS
P52332	Jak1	Tyrosine-protein kinase JAK1	Mus musculus (Mouse)	SS
Q03526	Itk	Tyrosine-protein kinase ITK/TSK	Mus musculus (Mouse)	SS
P41242	Matk	Megakaryocyte-associated tyrosine-protein kinase	Mus musculus (Mouse)	SS
Q922K9	Frk	Tyrosine-protein kinase FRK	Mus musculus (Mouse)	SS
Q62120	Jak2	Tyrosine-protein kinase JAK2	Mus musculus (Mouse)	EV
A1Y2K1	FYN	Tyrosine-protein kinase Fyn	Sus scrofa (Pig)	SS
O19064	JAK2	Tyrosine-protein kinase JAK2	Sus scrofa (Pig)	SS
Q62662	Frk	Tyrosine-protein kinase FRK	Rattus norvegicus (Rat)	SS
Q62844	Fyn	Tyrosine-protein kinase Fyn	Rattus norvegicus (Rat)	SS
Q07014	Lyn	Tyrosine-protein kinase Lyn	Rattus norvegicus (Rat)	SS
P50545	Hck	Tyrosine-protein kinase HCK	Rattus norvegicus (Rat)	SS
Q9WUD9	Src	Proto-oncogene tyrosine-protein kinase Src	Rattus norvegicus (Rat)	SS
Q01621	Lck	Proto-oncogene tyrosine-protein kinase LCK	Rattus norvegicus (Rat)	SS
Q6P6U0	Fgr	Tyrosine-protein kinase Fgr	Rattus norvegicus (Rat)	SS
Q63272	Jak3	Tyrosine-protein kinase JAK3	Rattus norvegicus (Rat)	SS
P32577	Csk	Tyrosine-protein kinase CSK	Rattus norvegicus (Rat)	SS
P41243	Matk	Megakaryocyte-associated tyrosine-protein kinase	Rattus norvegicus (Rat)	SS
F1LM93	Yes1	Tyrosine-protein kinase Yes	Rattus norvegicus (Rat)	SS
Q62689	Jak2	Tyrosine-protein kinase JAK2	Rattus norvegicus (Rat)	SS
O45539	src-2	Tyrosine protein-kinase src-2	Caenorhabditis elegans	SS
G5ECJ6	csk-1	Tyrosine-protein kinase csk-1	Caenorhabditis elegans	SS
G5EE56	src-1	Tyrosine protein-kinase src-1	Caenorhabditis elegans	SS
A1A5H8	yes1	Tyrosine-protein kinase yes	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
F1RDG9	fynb	Tyrosine-protein kinase fynb	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O12990	jak1	Tyrosine-protein kinase JAK1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q1JPZ3	src	Proto-oncogene tyrosine-protein kinase Src	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q6EWH2	fyna	Tyrosine-protein kinase fyna	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MGMACLTMTE	MEGTSTSSIY	QNGDISGNAN	SMKQIDPVLQ	VYLYHSLGKS	EADYLTFPSG
70	80	90	100	110	120
EYVAEEICIA	ASKACGITPV	YHNMFALMSE	TERIWYPPNH	VFHIDESTRH	NVLYRIRFYF
130	140	150	160	170	180
PRWYCSGSNR	AYRHGISRGA	EAPLLDDFVM	SYLFAQWRHD	FVHGWIKVPV	THETQEECLG
190	200	210	220	230	240
MAVLDMMRIA	KENDQTPLAI	YNSISYKTFL	PKCIRAKIQD	YHILTRKRIR	YRFRRFIQQF
250	260	270	280	290	300
SQCKATARNL	KLKYLINLET	LQSAFYTEKF	EVKEPGSGPS	GEEIFATIII	TGNGGIQWSR
310	320	330	340	350	360
GKHKESETLT	EQDLQLYCDF	PNIIDVSIKQ	ANQEGSNESR	VVTIHKQDGK	NLEIELSSLR
370	380	390	400	410	420
EALSFVSLID	GYYRLTADAH	HYLCKEVAPP	AVLENIQSNC	HGPISMDFAI	SKLKKAGNQT
430	440	450	460	470	480
GLYVLRCSPK	DFNKYFLTFA	VERENVIEYK	HCLITKNENE	EYNLSGTKKN	FSSLKDLLNC
490	500	510	520	530	540
YQMETVRSDN	IIFQFTKCCP	PKPKDKSNLL	VFRTNGVSDV	PTSPTLQRPT	HMNQMVFHKI
550	560	570	580	590	600
RNEDLIFNES	LGQGTFTKIF	KGVRREVGDY	GQLHETEVLL	KVLDKAHRNY	SESFFEAASM
610	620	630	640	650	660
MSKLSHKHLV	LNYGVCVCGD	ENILVQEFVK	FGSLDTYLKK	NKNCINILWK	LEVAKQLAWA
670	680	690	700	710	720
MHFLEENTLI	HGNVCAKNIL	LIREEDRKTG	NPPFIKLSDP	GISITVLPKD	ILQERIPWVP
730	740	750	760	770	780
PECIENPKNL	NLATDKWSFG	TTLWEICSGG	DKPLSALDSQ	RKLQFYEDRH	QLPAPKWAEL
790	800	810	820	830	840
ANLINNCMDY	EPDFRPSFRA	IIRDLNSLFT	PDYELLTEND	MLPNMRIGAL	GFSGAFEDRD
850	860	870	880	890	900
PTQFEERHLK	FLQQLGKGNF	GSVEMCRYDP	LQDNTGEVVA	VKKLQHSTEE	HLRDFEREIE
910	920	930	940	950	960
ILKSLQHDNI	VKYKGVCYSA	GRRNLKLIME	YLPYGSLRDY	LQKHKERIDH	IKLLQYTSQI
970	980	990	1000	1010	1020
CKGMEYLGTK	RYIHRDLATR	NILVENENRV	KIGDFGLTKV	LPQDKEYYKV	KEPGESPIFW
1030	1040	1050	1060	1070	1080
YAPESLTESK	FSVASDVWSF	GVVLYELFTY	IEKSKSPPAE	FMRMIGNDKQ	GQMIVFHLIE
1090	1100	1110	1120	1130
LLKNNGRLPR	PDGCPDEIYM	IMTECWNNNV	NQRPSFRDLA	LRVDQIRDNM	AG