AiPD: Autoinhibited Protein Database

Q12851

Gene name	MAP4K2 (GCK, RAB8IP)
Protein name	Mitogen-activated protein kinase kinase kinase kinase 2
Names	B lymphocyte serine/threonine-protein kinase, Germinal center kinase, GC kinase, MAPK/ERK kinase kinase kinase 2, MEK kinase kinase 2, MEKKK 2, Rab8-interacting protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5871
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	STERILE20-LIKE KINASE, ISOFORM B-RELATED (PTHR48012)

Descriptions

MAP4K2 is a serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway.?Its autoinhibitory domain is at residues 466-670 in the Leu-rich domain. It inhibits MAPK/ERK kinase binding (reversible, stimulus-induced membrane translocation, which is required for activation) possibly via structural motifs.

Autoinhibitory domains (AIDs)

Target domain	16-273 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

466-670 (Leucine-rich domains)

Target domain

16-273 (Protein kinase domain)

Relief mechanism

Partner binding (perhaps binding of regulatory proteins to the C-terminal tail)

Assay

Deletion assay

Accessory elements

153-176 (Activation loop from InterPro)

Target domain	16-273 (Protein kinase domain)
Relief mechanism
Assay

References

Kyriakis JM (1999) "Signaling by the germinal center kinase family of protein kinases", The Journal of biological chemistry, 274, 5259-62

Autoinhibited structure

Activated structure

1 structures for Q12851

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12851-F1	Predicted				AlphaFoldDB

653 variants for Q12851

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6082197 rs777884876	2	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6082196 rs758591357	2	A>V		No	ClinGen ExAC gnomAD
CA223910931 rs921922478	3	L>V		No	ClinGen TOPMed gnomAD
rs778561381 CA381175680	5	R>G		No	ClinGen ExAC gnomAD
rs553275423 CA6082193	5	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778561381 CA6082194	5	R>W		No	ClinGen ExAC gnomAD
rs753653829 CA6082192	6	D>N		No	ClinGen ExAC TOPMed gnomAD
CA381175657 rs1262348780	7	V>M		No	ClinGen gnomAD
rs760215028 CA6082190	8	S>W		No	ClinGen ExAC TOPMed gnomAD
CA381175610 rs767202693	11	D>H		No	ClinGen ExAC gnomAD
CA6082187 rs767202693	11	D>N		No	ClinGen ExAC gnomAD
CA381175583 rs1245963427	13	R>Q		No	ClinGen gnomAD
rs1196517387 CA381175581	14	D>N		No	ClinGen gnomAD
rs774064500 CA6082185	15	R>H		No	ClinGen ExAC gnomAD
CA6082186 rs774064500	15	R>L		No	ClinGen ExAC gnomAD
CA381175562 rs1304703446	16	F>L		No	ClinGen TOPMed
rs1404213024 CA381175490	21	R>H		No	ClinGen TOPMed
rs776950112 CA6082182	22	V>L		No	ClinGen ExAC gnomAD
rs771401895 CA6082181	24	A>T		No	ClinGen ExAC gnomAD
rs1288431853 CA381175444	24	A>V		No	ClinGen TOPMed
CA6082177 rs748263034	29	D>E		No	ClinGen ExAC gnomAD
rs1225248434 CA381175361	29	D>G		No	ClinGen TOPMed
rs772201205 CA223910906	29	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6082178 rs772201205	29	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1442642533 CA381175323	32	K>E		No	ClinGen TOPMed gnomAD
CA381175316 rs1368858475	32	K>R		No	ClinGen gnomAD
rs549066319 CA223910851	33	A>D		No	ClinGen Ensembl
rs751055021 CA6082151	34	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6082150 rs763548153	35	D>G		No	ClinGen ExAC TOPMed gnomAD
CA381175210 rs1319586311	36	T>A		No	ClinGen gnomAD
CA223910849 rs998064555	36	T>M		No	ClinGen Ensembl
CA223910831 rs867516018	37	V>A		No	ClinGen Ensembl
CA6082147 rs766674993	37	V>L		No	ClinGen ExAC gnomAD
rs761035711 CA223910828	38	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761035711 CA6082146	38	T>M		No	ClinGen ExAC TOPMed gnomAD
rs773671379 CA6082145	41	L>M		No	ClinGen ExAC TOPMed gnomAD
rs773671379 CA381175156	41	L>V		No	ClinGen ExAC TOPMed gnomAD
rs768036464 CA381175139	42	A>D		No	ClinGen ExAC gnomAD
rs768036464 CA6082144	42	A>G		No	ClinGen ExAC gnomAD
CA6082142 rs774458517	43	A>T		No	ClinGen ExAC gnomAD
rs749469213 CA6082140	44	V>M		No	ClinGen ExAC gnomAD
rs1321163738 CA381175090	46	I>T		No	ClinGen gnomAD
CA6082139 rs775857725	47	V>L		No	ClinGen ExAC
CA223910810 rs529020565	48	K>T		No	ClinGen Ensembl
rs1248288211 CA381174987	51	P>A		No	ClinGen gnomAD
CA6082114 rs375333253	53	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6082115 rs375333253	53	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6082113 rs370692655	54	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200194327 CA6082111	55	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1392638781 CA381174760	57	S>F		No	ClinGen TOPMed gnomAD
rs781561267 CA6082108	59	Q>R		No	ClinGen ExAC gnomAD
CA381174678 rs1219970302	60	Q>R		No	ClinGen TOPMed
CA6082107 rs757566744	63	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1179171157 CA381174617	63	T>I		No	ClinGen gnomAD
CA6082105 rs764529306	64	I>M		No	ClinGen ExAC gnomAD
CA381174600 rs1197059535	64	I>T		No	ClinGen TOPMed
CA381174581 rs1180034762	65	L>P		No	ClinGen gnomAD
CA6082104 rs763601417	66	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765476877 CA6082102	69	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381174512 rs1204084431	69	R>P		No	ClinGen gnomAD
CA381174490 rs1286382931	71	P>H		No	ClinGen gnomAD
rs759823231 CA6082101	72	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1393968424 CA381174455	73	V>M		No	ClinGen gnomAD
CA6082098 rs144901559	75	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201125222 CA6082097	75	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157395266 CA381174396	76	Y>C		No	ClinGen gnomAD
CA381174410 rs1592616526	76	Y>N		No	ClinGen Ensembl
rs1364495490 CA381174379	77	I>V		No	ClinGen TOPMed gnomAD
rs141149282 CA6082096	80	Y>C		No	ClinGen ESP ExAC gnomAD
CA6082083 rs146480241	83	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6082082 rs754053778	85	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1227260904 CA381174075	88	I>V		No	ClinGen gnomAD
rs1010601975 CA223910524	90	M>T		No	ClinGen TOPMed gnomAD
CA381173979 rs1268734198	91	E>V		No	ClinGen gnomAD
CA381173947 rs888445183	93	C>*		No	ClinGen gnomAD
rs149943726 CA381173944	94	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs149943726 CA6082078	94	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs149943726 CA6082077	94	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6082074 rs748816580	95	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6082075 rs140494021	95	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA381173934 rs140494021	95	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA381173925 rs1444752594	96	G>R		No	ClinGen gnomAD
rs775113865 CA6082073	97	S>F		No	ClinGen ExAC gnomAD
rs775113865 CA381173915	97	S>Y		No	ClinGen ExAC gnomAD
CA381173900 rs1376997450	99	Q>P		No	ClinGen gnomAD
CA381173852 rs1176398668	103	H>N		No	ClinGen gnomAD
CA223910472 rs996615626	104	A>S		No	ClinGen TOPMed
CA381173673 rs1363227248	107	P>T		No	ClinGen gnomAD
CA381173656 rs1592612190	108	L>R		No	ClinGen Ensembl
CA381173632 rs1424844594	109	E>G		No	ClinGen gnomAD
CA381173615 rs1353316937	110	E>D		No	ClinGen gnomAD
CA6082029 rs35107642	111	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6082030 rs35107642	111	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs913741456 CA223910048	114	A>V		No	ClinGen TOPMed
CA381173545 rs1427176309	115	Y>S		No	ClinGen gnomAD
rs140728936 CA6082026	116	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA223910022 rs922294037	117	C>S		No	ClinGen TOPMed
CA6082024 rs769712585	118	R>*		No	ClinGen ExAC TOPMed gnomAD
rs769712585 CA6082025	118	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000956959 rs115646677 CA6082023	120	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781288512 CA6082022	121	L>M		No	ClinGen ExAC TOPMed gnomAD
rs747164448 CA6082002	126	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6082001 rs368626315	127	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA381173342 rs1446525107	129	S>F		No	ClinGen gnomAD
rs1363342189 CA381173337	130	Q>*		No	ClinGen gnomAD
CA6081994 rs765931481	137	I>T		No	ClinGen ExAC gnomAD
rs753884208 CA6081995	137	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1168556542 CA381173177	139	G>R		No	ClinGen TOPMed
CA381173168 rs1361193585	140	A>P		No	ClinGen gnomAD
rs1337177000 CA381173141	142	L>V		No	ClinGen TOPMed
CA6081971 rs375621714	146	L>H		No	ClinGen ESP ExAC gnomAD
CA6081968 rs1555160528	147	Q>E		No	ClinGen Ensembl
CA381173067 rs1302662910	148	G>R		No	ClinGen gnomAD
CA381173052 rs1422920795	149	D>V		No	ClinGen gnomAD
CA381173044 rs1387327224	150	V>I		No	ClinGen gnomAD
rs756920304 CA6081967	152	L>P		No	ClinGen ExAC TOPMed
rs777422213 CA6081947	153	A>G		No	ClinGen ExAC TOPMed gnomAD
CA381171873 rs1565625419	156	G>E		No	ClinGen Ensembl
CA381171854 rs1592606919	157	V>G		No	ClinGen Ensembl
CA381171847 rs1263134743	158	S>*		No	ClinGen gnomAD
CA381171845 rs1263134743	158	S>L		No	ClinGen gnomAD
rs145635203 CA223908736	160	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237291851 CA381171828	160	E>K		No	ClinGen TOPMed
rs766799695 CA6081944	163	A>T		No	ClinGen ExAC gnomAD
rs1044855006 CA223908726	164	S>P		No	ClinGen TOPMed
CA6081942 rs750908059	165	V>L		No	ClinGen ExAC gnomAD
CA381171734 rs1330575595	166	A>T		No	ClinGen gnomAD
rs767567086 CA6081941	169	R>K		No	ClinGen ExAC gnomAD
CA381171655 rs1592606783	170	S>A		No	ClinGen Ensembl
rs1470651116 CA381171613	172	I>T		No	ClinGen gnomAD
CA6081939 rs774584784	173	G>E		No	ClinGen ExAC gnomAD
CA381171602 rs1157504394	174	T>A		No	ClinGen gnomAD
rs768966858 CA6081938	174	T>I		No	ClinGen ExAC TOPMed
CA6081937 rs763331907	175	P>R		No	ClinGen ExAC gnomAD
CA381171461 rs1445394611	178	M>I		No	ClinGen gnomAD
CA6081916 rs759269291	181	E>K		No	ClinGen ExAC gnomAD
rs144780110 CA223908621	182	V>M		No	ClinGen ESP TOPMed gnomAD
rs976187223 CA223908616	183	A>D		No	ClinGen TOPMed gnomAD
rs1169569382 CA381171406	183	A>T		No	ClinGen TOPMed
rs966597402 CA223908611	184	A>S		No	ClinGen TOPMed gnomAD
CA6081915 rs776535282	184	A>V		No	ClinGen ExAC
rs747038060 CA6081913	185	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6081912 rs564999533	186	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs544731329 CA6081911	187	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6081910 rs747732537	187	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6081908 rs200727238	188	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1415147880 CA381171308	189	G>D		No	ClinGen gnomAD
rs369951033 CA6081906	195	C>Y		No	ClinGen ESP ExAC gnomAD
rs752124999 CA6081904	197	V>I		No	ClinGen ExAC gnomAD
rs1223489217 CA381171080	204	A>T		No	ClinGen TOPMed gnomAD
rs758577602 CA6081902	205	I>M		No	ClinGen ExAC gnomAD
CA381171033 rs1212683315	206	E>D		No	ClinGen gnomAD
rs752914321 CA6081901	208	G>D		No	ClinGen ExAC
CA381171000 rs1403811053	209	E>K		No	ClinGen gnomAD
rs774116036 CA223908553	210	L>R		No	ClinGen TOPMed
CA381170967 rs759840531	212	P>A		No	ClinGen ExAC gnomAD
rs759840531 CA6081899	212	P>T		No	ClinGen ExAC gnomAD
rs1217309718 CA381170948	213	P>L		No	ClinGen TOPMed
rs766257056 CA6081897	214	L>Q		No	ClinGen ExAC gnomAD
rs1426429933 CA381170877	218	H>Y		No	ClinGen gnomAD
rs375763001 CA223908527	219	P>R		No	ClinGen ESP TOPMed gnomAD
CA6081883 rs765426591	222	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765426591 CA381170761	222	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1013373061 CA223908490	222	A>V		No	ClinGen Ensembl
CA381170712 rs1250094511	224	M>I		No	ClinGen gnomAD
CA223908481 rs755144656	225	L>F		No	ClinGen ExAC TOPMed gnomAD
rs754106913 CA6081881	225	L>H		No	ClinGen ExAC TOPMed gnomAD
rs755144656 CA6081882	225	L>I		No	ClinGen ExAC TOPMed gnomAD
rs367969710 CA6081879	226	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766024956 CA381170689	226	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6081880 rs766024956	226	M>T		No	ClinGen ExAC TOPMed gnomAD
CA223908466 rs937088102	226	M>V		No	ClinGen TOPMed
rs773086220 CA6081878	227	S>L		No	ClinGen ExAC TOPMed gnomAD
rs949554433 CA223908447	230	S>N		No	ClinGen TOPMed
CA381170597 rs1304504730	232	Q>*		No	ClinGen gnomAD
rs773719386 CA6081875	233	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381170575 rs773719386	233	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA223908441 rs867955551	233	P>S		No	ClinGen Ensembl
rs1052280802 CA223908430	236	L>Q		No	ClinGen gnomAD
rs1377910684 CA381170525	237	R>G		No	ClinGen TOPMed
CA6081872 rs775240466	237	R>S		No	ClinGen ExAC gnomAD
rs771148874 CA381170508	238	D>A		No	ClinGen ExAC gnomAD
rs1311092352 CA381170499	238	D>E		No	ClinGen TOPMed
rs1466665821 CA381170512	238	D>H		No	ClinGen TOPMed gnomAD
rs1466665821 CA381170513	238	D>N		No	ClinGen TOPMed gnomAD
rs771148874 CA6081871	238	D>V		No	ClinGen ExAC gnomAD
rs1157242910 CA381170494	239	K>E		No	ClinGen gnomAD
rs139068533 CA6081869	241	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139068533 CA6081870	241	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA381170458 rs1182762792	241	R>H		No	ClinGen TOPMed gnomAD
rs1163657530 CA381170311	243	T>S		No	ClinGen gnomAD
rs757074978 CA6081841	244	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1052591123 CA223908157	245	N>D		No	ClinGen TOPMed
rs999664979 CA223908155	245	N>S		No	ClinGen TOPMed
rs930801672 CA223908151	247	H>Y		No	ClinGen Ensembl
rs1477898704 CA381170188	253	A>T		No	ClinGen gnomAD
rs1350808642 CA381170161	255	T>I		No	ClinGen gnomAD
rs1267693560 CA381170154	256	K>R		No	ClinGen gnomAD
rs764069810 CA6081839	258	P>S		No	ClinGen ExAC gnomAD
CA381170069 rs1210829065	261	R>S		No	ClinGen gnomAD
CA6081837 rs150751565 COSM1355786 COSM1355787	262	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA223908141 rs150751565	262	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6081836 rs150751565	262	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1487422061 CA381170010	266	K>E		No	ClinGen Ensembl
rs1282754020 CA381169994	266	K>N		No	ClinGen gnomAD
CA381170001 rs1318757906	266	K>T		No	ClinGen gnomAD
CA381169963 rs1333051217	269	Q>*		No	ClinGen gnomAD
rs758134863 CA6081797	271	P>L		No	ClinGen ExAC gnomAD
CA381169766 rs1202162207	272	F>L		No	ClinGen TOPMed
CA6081795 rs779017799	273	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766057122 CA6081792	274	T>I		No	ClinGen ExAC gnomAD
rs755781662 CA6081791	275	Q>*		No	ClinGen ExAC gnomAD
CA381169694 rs1565623210	276	Q>E		No	ClinGen Ensembl
rs1413665419 CA381169675	276	Q>H		No	ClinGen gnomAD
CA6081790 rs750045507	278	P>S		No	ClinGen ExAC gnomAD
rs141134010 COSM1289600 CA6081788 COSM1289599	279	R>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6081786 rs141134010	279	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081787 rs141134010	279	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081789 rs764475692	279	R>W		No	ClinGen ExAC TOPMed gnomAD
rs61736646 CA223907996	282	L>V		No	ClinGen TOPMed gnomAD
rs1217034490 CA381169585	283	T>A		No	ClinGen gnomAD
rs770926564 CA6081783	289	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1040754134 CA223907981	290	S>R		No	ClinGen TOPMed gnomAD
rs1269021523 CA381169420	292	P>A		No	ClinGen gnomAD
CA6081782 rs760886265	293	H>N		No	ClinGen ExAC gnomAD
CA381169388 rs1323230869	293	H>Q		No	ClinGen gnomAD
CA381169386 rs773339176	294	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6081781 rs773339176	294	L>V		No	ClinGen ExAC TOPMed gnomAD
CA223907970 rs1008881642	295	G>E		No	ClinGen TOPMed
rs1420668212 CA381169334	296	T>I		No	ClinGen gnomAD
rs747934388 CA6081779	297	P>L		No	ClinGen ExAC gnomAD
rs1212207040 CA381169328	297	P>S		No	ClinGen TOPMed
CA381169311 rs1565623030	298	S>P		No	ClinGen Ensembl
CA381169305 rs1163153790	298	S>Y		No	ClinGen gnomAD
CA381169296 rs1415171290	299	P>S		No	ClinGen TOPMed gnomAD
CA6081777 rs768713308	300	E>D		No	ClinGen ExAC gnomAD
CA6081776 rs755125070	302	C>Y		No	ClinGen ExAC gnomAD
CA6081774 rs755608982	303	E>D		No	ClinGen ExAC gnomAD
CA6081775 rs779561164	303	E>K		No	ClinGen ExAC gnomAD
CA223907949 rs1047801198	305	E>V		No	ClinGen Ensembl
CA6081755 rs769815073	306	T>A		No	ClinGen ExAC gnomAD
CA381169033 rs769815073	306	T>P		No	ClinGen ExAC gnomAD
CA381169012 rs1465666010	307	Y>H		No	ClinGen TOPMed gnomAD
CA6081754 rs144619505	308	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs779180381 CA6081750	309	M>K		No	ClinGen ExAC gnomAD
rs560717069 CA381168941	309	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779180381 CA6081751	309	M>R		No	ClinGen ExAC gnomAD
rs560717069 CA6081752	309	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223907758 rs964569507	310	F>C		No	ClinGen Ensembl
rs142661698 CA223907759	310	F>L		No	ClinGen ESP
CA381168858 rs1176547203	311	P>L		No	ClinGen gnomAD
rs755368892 CA6081749	312	D>G		No	ClinGen ExAC gnomAD
CA381168817 rs1592601625	313	T>P		No	ClinGen Ensembl
CA6081748 rs754323375	313	T>S		No	ClinGen ExAC gnomAD
rs1592601592 CA381168754	315	H>P		No	ClinGen Ensembl
CA6081746 rs138163806	315	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776104042 CA381168715	317	R>G		No	ClinGen ExAC gnomAD
rs188591647 CA6081744	317	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6081745 rs776104042	317	R>W		No	ClinGen ExAC gnomAD
rs762071869 CA6081743	318	G>E		No	ClinGen ExAC gnomAD
CA381168706 rs1461291672	318	G>R		No	ClinGen TOPMed
CA6081741 rs143530163	319	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377139117 CA381168637	320	H>P		No	ClinGen TOPMed
CA381168623 rs762816335	320	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6081740 rs762816335	320	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1377139117 CA381168634	320	H>R		No	ClinGen TOPMed
rs775390654 CA6081738	321	G>S		No	ClinGen ExAC TOPMed gnomAD
rs368424359 CA6081736	322	P>L		No	ClinGen ESP ExAC gnomAD
rs1435494525 CA381168588	323	A>S		No	ClinGen gnomAD
CA6081734 rs770430938	324	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6081733 rs746623104	324	E>V		No	ClinGen ExAC gnomAD
CA6081731 rs770618376	328	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1346260021 CA381168400	330	I>M		No	ClinGen TOPMed
rs1338439812 CA381168396	331	Q>*		No	ClinGen gnomAD
rs1422022251 CA381168389	331	Q>H		No	ClinGen TOPMed gnomAD
rs764898663 CA6081698	333	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6081697 rs147028714	334	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6081696 rs753683988	339	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381167446 rs1270064800	341	R>C		No	ClinGen gnomAD
CA381167448 rs1270064800	341	R>G		No	ClinGen gnomAD
CA6081694 rs760672228	341	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381167441 rs1457717586	342	R>K		No	ClinGen gnomAD
CA6081692 rs577821540	349	N>K		No	ClinGen ExAC TOPMed gnomAD
CA381167384 rs1306322967	350	E>G		No	ClinGen TOPMed
rs376731911 CA6081690	351	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376731911 CA381167373	351	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761308952 CA6081691	351	P>S		No	ClinGen ExAC gnomAD
CA223907388 rs1021502935	352	W>*		No	ClinGen TOPMed gnomAD
CA381167300 rs1331632702	352	W>R		No	ClinGen gnomAD
rs557772711 CA6081668	353	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6081667 rs747478629	355	E>K		No	ClinGen ExAC gnomAD
rs1174651652 CA381167244	356	W>R		No	ClinGen gnomAD
CA6081666 rs778445530	358	L>P		No	ClinGen ExAC gnomAD
CA381167193 rs1470815368	361	K>E		No	ClinGen gnomAD
rs1259907972 CA381167148	364	L>F		No	ClinGen TOPMed
rs1486768859 CA381167157	364	L>M		No	ClinGen TOPMed gnomAD
CA381167152 rs1156427020	364	L>S		No	ClinGen gnomAD
rs754073716 CA6081661	365	S>N		No	ClinGen ExAC gnomAD
rs1215581251 CA381167134	365	S>R		No	ClinGen gnomAD
CA381167136 rs1215581251	365	S>R		No	ClinGen gnomAD
rs755215068 CA6081662	365	S>R		No	ClinGen ExAC
CA381166875 rs1463494082	367	S>G		No	ClinGen gnomAD
CA6081633 rs780280452	367	S>N		No	ClinGen ExAC gnomAD
rs1220653056 CA381166776	370	Q>L		No	ClinGen TOPMed
rs1220653056 CA381166778	370	Q>R		No	ClinGen TOPMed
rs375745391 CA381166753	371	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081631 rs375745391	371	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250466111 CA381166747	372	V>I		No	ClinGen TOPMed
CA381166723 rs1215444982	373	Q>*		No	ClinGen gnomAD
rs866878272 CA223907078	373	Q>H		No	ClinGen Ensembl
rs757158005 CA6081629	375	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1196270888 CA381166611	377	E>*		No	ClinGen gnomAD
CA381166610 rs1308884771	377	E>V		No	ClinGen gnomAD
rs142464217 CA6081627	378	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA381166338 rs1413981535	383	I>V		No	ClinGen TOPMed
CA6081606 rs201248836	384	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6081607 rs752251893	384	R>W		No	ClinGen ExAC gnomAD
CA223907033 rs868652557	390	Q>R		No	ClinGen Ensembl
CA381164812 rs1209724355	393	D>Y		No	ClinGen gnomAD
CA223906049 rs771231481	396	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776739125 CA6081592	396	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1010094132 CA381164731	397	D>H		No	ClinGen gnomAD
rs1010094132 CA223906047	397	D>N		No	ClinGen gnomAD
rs1268692785 CA381164683	398	T>N		No	ClinGen gnomAD
CA6081589 rs777776359	399	M>K		No	ClinGen ExAC gnomAD
CA381164653 rs777776359	399	M>T		No	ClinGen ExAC gnomAD
rs145384465 CA6081587	403	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6081588 rs772123022	403	K>T		No	ClinGen ExAC gnomAD
rs370675343 CA223906025	404	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081585 rs370675343	404	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778501021 CA6081586	404	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6081583 rs376535923	405	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1355164789 CA381164440	406	P>A		No	ClinGen Ensembl
rs373475538 CA6081582	406	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6081581 rs373475538	406	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381164362 rs1373927838	409	G>W		No	ClinGen gnomAD
rs765248335 CA6081577	410	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765248335 CA381164335	410	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1453101854 CA381164340	410	P>T		No	ClinGen gnomAD
CA6081576 rs759510724	411	L>R		No	ClinGen ExAC gnomAD
CA381164277 rs1457335787	412	P>L		No	ClinGen gnomAD
CA381164283 rs1242386237	412	P>S		No	ClinGen TOPMed
CA6081574 rs776811635	413	T>A		No	ClinGen ExAC TOPMed gnomAD
CA381164260 rs1197707543	413	T>I		No	ClinGen gnomAD
rs776811635 CA381164276	413	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1197707543 CA381164263	413	T>S		No	ClinGen gnomAD
rs1592593972 CA381164234	414	D>A		No	ClinGen Ensembl
CA381164240 rs1340343816	414	D>N		No	ClinGen gnomAD
CA6081573 rs771053119	415	P>L		No	ClinGen ExAC gnomAD
rs1255186945 CA381164206	415	P>S		No	ClinGen gnomAD
CA381164183 rs1169887335	416	P>L		No	ClinGen TOPMed
rs1373049471 CA381164123	420	P>S		No	ClinGen gnomAD
rs1461209116 CA381164059	422	S>F		No	ClinGen TOPMed
rs202240428 CA223905989	424	P>L		No	ClinGen ESP TOPMed
rs1304131383 CA381164029	424	P>S		No	ClinGen gnomAD
rs1333432856 CA381163994	425	P>L		No	ClinGen gnomAD
CA381163999 rs1333432856	425	P>Q		No	ClinGen gnomAD
rs1445977262 CA381164003	425	P>S		No	ClinGen gnomAD
CA381163870 rs1245728299	426	G>E		No	ClinGen TOPMed
CA6081556 rs372451624	427	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445203722 CA381163764	430	P>L		No	ClinGen gnomAD
CA381163770 rs1445203722	430	P>R		No	ClinGen gnomAD
CA6081554 rs773602212	431	P>T		No	ClinGen ExAC TOPMed gnomAD
rs767374122 CA6081553	432	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381163710 rs1354992185	433	S>L		No	ClinGen TOPMed gnomAD
rs530729964 CA6081552	434	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381163679 rs530729964	434	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368722505 CA6081550	435	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA223905951 rs142390140	435	P>L		No	ClinGen ESP gnomAD
rs368722505 CA6081551	435	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs561904144 CA6081549	436	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381163555 rs1430518710	438	S>C		No	ClinGen TOPMed gnomAD
CA381163554 rs1430518710	438	S>F		No	ClinGen TOPMed gnomAD
CA6081548 rs148775269	439	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA223905942 rs966473118	439	P>S		No	ClinGen TOPMed
CA6081547 rs769374228	442	P>R		No	ClinGen ExAC gnomAD
rs774754763 CA381163475	443	T>K		No	ClinGen gnomAD
CA223905932 COSM1214474 rs774754763 COSM1214475	443	T>M	large_intestine skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA381163437 rs1282444945	444	A>V		No	ClinGen TOPMed
CA6081544 rs372194687	448	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6081542 rs779390703	451	R>Q		No	ClinGen ExAC gnomAD
CA223905923 rs762109609	451	R>W		No	ClinGen TOPMed gnomAD
rs375639819 CA6081540	453	D>N		No	ClinGen ESP ExAC gnomAD
CA381163139 rs1209859662	453	D>V		No	ClinGen TOPMed
CA6081541 rs375639819	453	D>Y		No	ClinGen ESP ExAC gnomAD
rs1268807920 CA381163058	454	P>R		No	ClinGen TOPMed
rs372392320 CA6081539	455	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA381162697 rs763743342	460	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA223905871 rs1047816018	460	H>R		No	ClinGen TOPMed gnomAD
rs1301946500 CA381162682	461	G>R		No	ClinGen gnomAD
CA6081514 rs140264433	462	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6081512 rs200327829	464	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6081511 rs759525597	464	P>Q		No	ClinGen ExAC gnomAD
rs200327829 COSM3359310 CA6081513 COSM3359311	464	P>T	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs998574679 CA223905865	465	T>P		No	ClinGen Ensembl
CA6081510 rs144357209	466	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449931696 CA381162238	470	M>L		No	ClinGen gnomAD
rs1260708472 CA381162232	470	M>T		No	ClinGen gnomAD
rs775870622 CA6081487	472	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381162123 rs1289075628	474	F>C		No	ClinGen gnomAD
rs1592592294 CA381162100	475	S>F		No	ClinGen Ensembl
CA6081486 rs770291705	476	K>R		No	ClinGen ExAC gnomAD
rs957529446 CA223905798	479	N>I		No	ClinGen TOPMed
rs1592592232 CA381161836	481	C>W		No	ClinGen Ensembl
rs141616163 CA6081484	484	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs373206883 CA223905781	487	A>T		No	ClinGen ESP gnomAD
rs777771254 CA6081481	487	A>V		No	ClinGen ExAC gnomAD
rs758586431 CA6081480	488	A>T		No	ClinGen ExAC TOPMed gnomAD
CA223905770 rs370785922	489	V>A		No	ClinGen Ensembl
CA6081478 rs778638556	493	H>Q		No	ClinGen ExAC gnomAD
CA6081477 rs754791301	496	T>I		No	ClinGen ExAC gnomAD
rs754791301 CA381161339	496	T>N		No	ClinGen ExAC gnomAD
CA381161344 rs754791301	496	T>S		No	ClinGen ExAC gnomAD
rs1424713741 CA381161317	497	R>Q		No	ClinGen gnomAD
CA381161322 rs1241790989	497	R>W		No	ClinGen TOPMed
rs779885464 CA6081456	499	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1254995889 CA381161150	500	F>L		No	ClinGen gnomAD
CA223905713 rs944984161	501	L>M		No	ClinGen TOPMed
CA6081454 rs145937083	502	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081455 rs145937083	502	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs763831166 CA6081450	506	E>K		No	ClinGen ExAC gnomAD
CA381160929 rs1178386823	507	E>K		No	ClinGen TOPMed
CA381160873 rs1302529106	508	G>D		No	ClinGen TOPMed gnomAD
rs146672785 CA6081449	509	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA381160866 rs146672785	509	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA381160844 rs1469291508	510	Y>C		No	ClinGen TOPMed
CA381160757 rs1372461698	512	L>F		No	ClinGen gnomAD
CA381160753 rs1323665329	512	L>H		No	ClinGen gnomAD
CA381160725 rs1393961879	513	N>S		No	ClinGen gnomAD
CA381160450 rs1367921650	520	D>N		No	ClinGen TOPMed
CA381160426 rs1220561399	520	D>V		No	ClinGen TOPMed
rs976670190 CA223905692	521	T>A		No	ClinGen TOPMed
CA223905691 rs138099576	521	T>M		No	ClinGen ESP TOPMed
CA381160377 rs1248471251	522	L>P		No	ClinGen gnomAD
COSM99079 CA6081444 rs773615041	522	L>V	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA381160099 rs1256529002	528	H>N		No	ClinGen TOPMed gnomAD
CA381160103 rs1256529002	528	H>Y		No	ClinGen TOPMed gnomAD
CA6081433 rs751113191	529	R>C		No	ClinGen ExAC gnomAD
CA6081432 rs771289180	529	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758067254 CA6081431	531	S>F		No	ClinGen ExAC TOPMed gnomAD
rs570019033 CA381159864	535	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747288746 CA223905654	535	C>Y		No	ClinGen Ensembl
rs1293030058 CA381159856	536	V>A		No	ClinGen gnomAD
CA6081428 COSM1604977 COSM1604976 rs375395333	536	V>M	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1015548924 CA223905652	539	V>M		No	ClinGen TOPMed
rs1490130683 CA381159566	544	S>P		No	ClinGen TOPMed
CA6081402 rs759812023	546	K>R		No	ClinGen ExAC gnomAD
CA223905609 rs1009863813	547	S>F		No	ClinGen Ensembl
CA381159312 rs373545894	548	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6081401 rs373545894	548	T>M		No	ClinGen ExAC TOPMed gnomAD
CA381159326 rs1340635827	548	T>P		No	ClinGen gnomAD
CA223905596 rs202211874	550	I>V		No	ClinGen Ensembl
CA381159120 rs1592590444	554	D>A		No	ClinGen Ensembl
rs1438860692 CA381159101	555	L>F		No	ClinGen TOPMed gnomAD
rs746904238 CA6081399	559	F>L		No	ClinGen ExAC
CA381159040 rs1229623916	559	F>V		No	ClinGen gnomAD
rs935712364 CA223905594	561	Q>*		No	ClinGen Ensembl
rs773254234 CA6081398	561	Q>R		No	ClinGen ExAC gnomAD
rs565633083 CA6081396	562	R>Q		No	ClinGen ExAC gnomAD
rs772184647 CA6081397	562	R>W		No	ClinGen ExAC gnomAD
rs778551391 CA6081395	564	L>P		No	ClinGen ExAC gnomAD
rs1169275320 CA381158914	565	Q>R		No	ClinGen TOPMed
CA381158872 rs1453735365	567	Q>L		No	ClinGen gnomAD
CA381158844 rs1592590297	568	V>G		No	ClinGen Ensembl
rs748981285 CA6081393	570	L>F		No	ClinGen ExAC gnomAD
rs141378598 CA223905585	571	S>F		No	ClinGen ESP TOPMed gnomAD
CA381158798 rs1394804980	571	S>P		No	ClinGen TOPMed
rs199562921 CA223905584	572	I>T		No	ClinGen Ensembl
rs1592590218 CA381158739	574	T>P		No	ClinGen Ensembl
CA6081391 rs781359920	576	R>C		No	ClinGen ExAC gnomAD
CA381158695 rs781359920	576	R>G		No	ClinGen ExAC gnomAD
rs1229719882 CA381158690	576	R>H		No	ClinGen gnomAD
CA6081389 rs528236149	577	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs528236149 CA6081390	577	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs148240107 CA6081388	580	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081387 rs34264803 RCV000956958	580	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA223905572 rs34264803	580	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761043695 CA6081364	585	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1034294095 CA223903873	585	R>H		No	ClinGen TOPMed gnomAD
rs1034294095 CA381156797	585	R>L		No	ClinGen TOPMed gnomAD
CA381156705 rs1361270195	588	L>P		No	ClinGen gnomAD
CA223903860 rs868539285	590	T>A		No	ClinGen Ensembl
CA381156611 rs1388762066	593	P>A		No	ClinGen gnomAD
CA381156596 rs1163676516	594	D>N		No	ClinGen gnomAD
CA381156550 rs1367071488	595	T>A		No	ClinGen gnomAD
CA381156529 rs1167429932	596	K>T		No	ClinGen gnomAD
rs147023707 CA6081360	600	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081359 rs768512421	602	R>C		No	ClinGen ExAC gnomAD
rs762499243 CA6081358	602	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762499243 CA381156375	602	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1266986620 CA381156345	603	V>G		No	ClinGen gnomAD
CA6081327 rs202006912	605	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6081328 rs779211660	605	R>W		No	ClinGen ExAC gnomAD
rs17854520 CA381156185	606	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs972618838 CA223903715	606	N>T		No	ClinGen Ensembl
rs1237866547 CA381156168	607	P>L		No	ClinGen gnomAD
rs780231943 CA6081325	608	Y>H		No	ClinGen ExAC gnomAD
CA223903700 rs922945025	609	T>A		No	ClinGen Ensembl
rs745983145 CA6081323	609	T>M		No	ClinGen ExAC TOPMed gnomAD
CA223903695 rs781449084	610	G>D		No	ClinGen ExAC gnomAD
rs781449084 CA6081322	610	G>V		No	ClinGen ExAC gnomAD
rs757474444 CA6081321	611	A>T		No	ClinGen ExAC gnomAD
rs1413272279 CA381156045	611	A>V		No	ClinGen gnomAD
rs1173301576 CA381155958	614	L>P		No	ClinGen gnomAD
rs373215786 CA223903670	617	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373215786 CA6081319	617	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA381155886 rs1472770331	619	P>S		No	ClinGen gnomAD
CA6081318 rs758285297	620	T>P		No	ClinGen ExAC gnomAD
CA381155743 rs1278712044	623	L>F		No	ClinGen gnomAD
CA381155705 rs1275056237	624	L>R		No	ClinGen TOPMed
CA6081316 rs765200904	625	L>P		No	ClinGen ExAC TOPMed gnomAD
CA381155624 rs1193193439	627	W>C		No	ClinGen TOPMed
CA223903656 rs888786278	628	Y>D		No	ClinGen TOPMed
rs145848436 CA6081315	630	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs766051772 CA6081313	632	Q>R		No	ClinGen ExAC gnomAD
CA381155412 rs760248491	633	K>N		No	ClinGen ExAC gnomAD
rs768923095 CA6081310	635	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749771789 CA6081309	638	K>R		No	ClinGen ExAC gnomAD
rs934254344 CA223903569	639	N>D		No	ClinGen TOPMed
rs776051598 CA6081289	640	F>S		No	ClinGen ExAC gnomAD
CA381155129 rs1205056479	641	S>C		No	ClinGen gnomAD
CA6081288 rs572837811	642	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA381155044 rs922935547	645	P>S		No	ClinGen gnomAD
CA223903555 rs922935547	645	P>T		No	ClinGen gnomAD
rs972159966 CA223903551	647	P>A		No	ClinGen TOPMed
CA381154937 rs1592578383	648	A>V		No	ClinGen Ensembl
CA6081285 COSM930205 COSM930204 rs770950632	653	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA381154780 rs770950632	653	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6081286 rs373936475	653	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA381154681 rs1192508058	655	V>M		No	ClinGen gnomAD
rs772340378 CA6081282	657	D>H		No	ClinGen ExAC TOPMed gnomAD
CA381154598 rs1181963003	657	D>V		No	ClinGen gnomAD
CA223903544 rs908946777	659	K>Q		No	ClinGen Ensembl
CA381154542 rs1482350465	659	K>R		No	ClinGen gnomAD
rs1277339108 CA381154511	660	E>Q		No	ClinGen gnomAD
rs1311610042 CA381154451	662	P>R		No	ClinGen gnomAD
CA381154372 rs1592578149	664	V>G		No	ClinGen Ensembl
CA381154300 rs1592578139	666	V>G		No	ClinGen Ensembl
CA223903536 rs984593857	668	A>G		No	ClinGen TOPMed
rs1287463116 CA381154261	668	A>T		No	ClinGen gnomAD
CA381154237 rs984593857	668	A>V		No	ClinGen TOPMed
CA6081275 rs749995391	669	E>D		No	ClinGen ExAC gnomAD
rs369761408 CA6081277	669	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369761408 CA6081278	669	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081276 rs755547581	669	E>V		No	ClinGen ExAC TOPMed gnomAD
CA381154221 rs767263762	670	G>R		No	ClinGen ExAC gnomAD
CA6081274 rs767263762	670	G>W		No	ClinGen ExAC gnomAD
CA381154137 rs1177687938	673	G>R		No	ClinGen gnomAD
CA6081270 rs765723301	675	G>A		No	ClinGen ExAC
CA381154101 rs753057121	675	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6081271 rs753057121	675	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM3687497 CA6081269 COSM3687496 rs374778757	677	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374778757 CA223903504	677	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371279139 CA6081268	677	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376125345 CA6081266 COSM1188286 COSM1188287	678	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA223903490 rs376125345	678	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381153907 rs1324395422	681	H>R		No	ClinGen gnomAD
rs748382834 CA6081263	681	H>Y		No	ClinGen ExAC gnomAD
CA381153888 rs1330871519	682	V>A		No	ClinGen gnomAD
rs140015876 CA6081261	682	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779830156 CA6081259	683	L>V		No	ClinGen ExAC TOPMed gnomAD
CA381153839 rs1376938585	684	P>L		No	ClinGen gnomAD
rs780849682 CA6081256	686	E>*		No	ClinGen ExAC gnomAD
CA381153689 rs1156417013	687	A>S		No	ClinGen gnomAD
rs1364105306 CA381153672	687	A>V		No	ClinGen TOPMed
rs756924929 CA6081255	688	G>A		No	ClinGen ExAC gnomAD
rs1458501535 CA381153668	688	G>S		No	ClinGen gnomAD
COSM240596 CA6081253 rs372121127 COSM3355815	690	T>M	prostate breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6081250 rs747021827	691	P>L		No	ClinGen ExAC gnomAD
CA6081251 rs201927418	691	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM930203 rs772160557 CA6081247 COSM930202	692	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA381153433 rs1261058921	693	I>F		No	ClinGen gnomAD
CA381153429 rs1243860368	693	I>T		No	ClinGen gnomAD
rs1319730200 CA381153379	694	L>F		No	ClinGen TOPMed gnomAD
CA381153398 rs1319730200	694	L>I		No	ClinGen TOPMed gnomAD
rs559558840 CA6081245	695	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381153315 rs1486586935	697	P>A		No	ClinGen TOPMed
CA223903437 rs374144497	697	P>R		No	ClinGen ESP TOPMed
CA381153285 rs1363754037	698	E>K		No	ClinGen gnomAD
CA223902648 rs926682182	703	S>L		No	ClinGen TOPMed gnomAD
CA381152221 rs1370533337	705	Q>H		No	ClinGen gnomAD
rs1353484950 CA381152216	706	Q>E		No	ClinGen gnomAD
CA381152117 rs1187682500	710	V>M		No	ClinGen TOPMed
CA6081235 rs746570975	713	D>G		No	ClinGen ExAC gnomAD
CA6081234 rs777555573	715	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6081232 rs375927430	716	L>P		No	ClinGen ESP ExAC gnomAD
CA6081233 rs758137477	716	L>V		No	ClinGen ExAC gnomAD
rs766782005 CA6081231	717	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1045210408 CA223902635	718	S>N		No	ClinGen TOPMed gnomAD
rs151089831 CA6081230	721	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144446553 CA6081214	722	C>Y		No	ClinGen ESP ExAC TOPMed
CA6081213 rs780240623	725	I>T		No	ClinGen ExAC TOPMed gnomAD
rs79516942 CA223902537	725	I>V		No	ClinGen Ensembl
rs887009307 CA223902532	727	N>H		No	ClinGen Ensembl
rs1408392942 CA381151554	727	N>K		No	ClinGen gnomAD
rs1323538700 CA381151564	727	N>S		No	ClinGen TOPMed
CA223902529 rs139845154	728	M>L		No	ClinGen ESP TOPMed
rs756467759 CA6081212	729	Q>R		No	ClinGen ExAC gnomAD
rs202021353 CA6081210	731	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381151330 rs145971059	733	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145971059 CA6081209	733	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA223902508 rs143967615	736	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6081207 rs143967615	736	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185367285 CA381151235 COSM930201 COSM930200	737	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA381151211 rs1592572614	738	P>R		No	ClinGen Ensembl
CA381151218 rs1243237252	738	P>S		No	ClinGen gnomAD
rs1207702033 CA381151209	739	E>K		No	ClinGen gnomAD
rs1592572586 CA381151166	740	L>P		No	ClinGen Ensembl
CA381151160 rs1565607959	741	T>A		No	ClinGen Ensembl
rs1565607945 CA381151159	741	T>N		No	ClinGen Ensembl
CA381150980 rs746314836	746	I>M		No	ClinGen ExAC TOPMed gnomAD
rs949510507 CA223902503	746	I>V		No	ClinGen TOPMed
CA6081203 rs148398112	747	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs929299451 CA223902362	751	C>F		No	ClinGen TOPMed
rs753629166 CA6081184	751	C>R		No	ClinGen ExAC gnomAD
CA6081183 rs371801593	754	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA381150542 rs1197775940	755	S>N		No	ClinGen gnomAD
CA223902350 rs535931498	756	V>M		No	ClinGen Ensembl
CA381150465 rs1363088801	758	A>V		No	ClinGen gnomAD
rs1293085806 CA381150352	761	S>R		No	ClinGen gnomAD
rs1305784189 CA381150236	763	G>E		No	ClinGen gnomAD
CA381150249 rs1205077586	763	G>R		No	ClinGen gnomAD
CA223902341 rs935494939	767	R>Q		No	ClinGen TOPMed gnomAD
rs1344629267 CA381149969	772	N>K		No	ClinGen gnomAD
CA6081181 rs773169513	772	N>S		No	ClinGen ExAC gnomAD
CA6081155 rs763613582	774	V>M		No	ClinGen ExAC gnomAD
rs1473622173 CA381149651	779	T>I		No	ClinGen TOPMed gnomAD
CA6081153 rs775105122	780	D>V		No	ClinGen ExAC gnomAD
CA381149499 rs1417829576	784	I>T		No	ClinGen gnomAD
CA6081152 rs769496570	784	I>V		No	ClinGen ExAC
rs747399938 CA6081151	786	R>*		No	ClinGen ExAC gnomAD
COSM1298390 rs773457675 COSM1298389 CA6081150	786	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA381149408 rs1592571039	787	V>M		No	ClinGen Ensembl
CA381149366 rs1482931251	788	L>V		No	ClinGen gnomAD
CA6081149 rs772573845	791	H>R		No	ClinGen ExAC gnomAD
CA223902257 rs982593684	792	R>K		No	ClinGen Ensembl
CA223902149 rs973960570	796	L>Q		No	ClinGen Ensembl
rs1383577397 CA381149085	797	E>K		No	ClinGen gnomAD
rs1310955884 CA381149053	797	E>V		No	ClinGen TOPMed
CA381149023 rs1289857275	798	S>T		No	ClinGen gnomAD
rs1277359749 CA381148886	803	N>S		No	ClinGen TOPMed
CA223902144 rs943548414	804	P>A		No	ClinGen TOPMed gnomAD
rs943548414 CA381148868	804	P>S		No	ClinGen TOPMed gnomAD
CA6081129 rs774975786	806	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6081127 rs138670275	807	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA223902132 rs960777727	808	S>G		No	ClinGen Ensembl
CA381148724 rs756057875	808	S>R		No	ClinGen gnomAD
rs1190458199 CA381148677	810	L>V		No	ClinGen gnomAD
rs767710290 CA223902125	812	I>V		No	ClinGen TOPMed gnomAD
CA223902122 rs929313535	814	T>M		No	ClinGen TOPMed gnomAD
CA6081124 rs746096520	818	S>G		No	ClinGen ExAC
rs368022804 CA6081123	818	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA223902089 rs942121543	820	Y>C		No	ClinGen TOPMed gnomAD

No associated diseases with Q12851

3 regional properties for Q12851

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	16 - 273	IPR000719
domain	Citron homology (CNH) domain	482 - 800	IPR001180
binding_site	Protein kinase, ATP binding site	22 - 45	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Basolateral cell membrane ; Peripheral membrane protein Golgi apparatus membrane ; Peripheral membrane protein
PANTHER Family	PTHR48012	STERILE20-LIKE KINASE, ISOFORM B-RELATED
PANTHER Subfamily	PTHR48012:SF6	MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	Gonadotropin-releasing hormone receptor pathway MAP4Ks Apoptosis signaling pathway GCK

2 GO annotations of cellular component

Name	Definition
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase kinase kinase activity	Catalysis of the phosphorylation of serine and threonine residues in a mitogen-activated protein kinase kinase kinase (MAPKKK), resulting in activation of MAPKKK. MAPKKK signaling pathways relay, amplify and integrate signals from the plasma membrane to the nucleus in response to a diverse range of extracellular stimuli.
mitogen-activated protein kinase kinase kinase binding	Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
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.

8 GO annotations of biological process

Name	Definition
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
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.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
vesicle targeting	The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9H2G2	SLK	STE20-like serine/threonine-protein kinase	Homo sapiens (Human)	PR
O94804	STK10	Serine/threonine-protein kinase 10	Homo sapiens (Human)	PR
O95747	OXSR1	Serine/threonine-protein kinase OSR1	Homo sapiens (Human)	PR
Q9UEW8	STK39	STE20/SPS1-related proline-alanine-rich protein kinase	Homo sapiens (Human)	PR
Q9Y4K4	MAP4K5	Mitogen-activated protein kinase kinase kinase kinase 5	Homo sapiens (Human)	PR
Q92918	MAP4K1	Mitogen-activated protein kinase kinase kinase kinase 1	Homo sapiens (Human)	EV
Q8IVH8	MAP4K3	Mitogen-activated protein kinase kinase kinase kinase 3	Homo sapiens (Human)	SS
Q9P289	STK26	Serine/threonine-protein kinase 26	Homo sapiens (Human)	PR
Q9Y6E0	STK24	Serine/threonine-protein kinase 24	Homo sapiens (Human)	PR
O00506	STK25	Serine/threonine-protein kinase 25	Homo sapiens (Human)	PR
Q99JP0	Map4k3	Mitogen-activated protein kinase kinase kinase kinase 3	Mus musculus (Mouse)	SS
P70218	Map4k1	Mitogen-activated protein kinase kinase kinase kinase 1	Mus musculus (Mouse)	PR
Q8BPM2	Map4k5	Mitogen-activated protein kinase kinase kinase kinase 5	Mus musculus (Mouse)	PR
Q61161	Map4k2	Mitogen-activated protein kinase kinase kinase kinase 2	Mus musculus (Mouse)	SS
Q924I2	Map4k3	Mitogen-activated protein kinase kinase kinase kinase 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MALLRDVSLQ	DPRDRFELLQ	RVGAGTYGDV	YKARDTVTSE	LAAVKIVKLD	PGDDISSLQQ
70	80	90	100	110	120
EITILRECRH	PNVVAYIGSY	LRNDRLWICM	EFCGGGSLQE	IYHATGPLEE	RQIAYVCREA
130	140	150	160	170	180
LKGLHHLHSQ	GKIHRDIKGA	NLLLTLQGDV	KLADFGVSGE	LTASVAKRRS	FIGTPYWMAP
190	200	210	220	230	240
EVAAVERKGG	YNELCDVWAL	GITAIELGEL	QPPLFHLHPM	RALMLMSKSS	FQPPKLRDKT
250	260	270	280	290	300
RWTQNFHHFL	KLALTKNPKK	RPTAEKLLQH	PFTTQQLPRA	LLTQLLDKAS	DPHLGTPSPE
310	320	330	340	350	360
DCELETYDMF	PDTIHSRGQH	GPAERTPSEI	QFHQVKFGAP	RRKETDPLNE	PWEEEWTLLG
370	380	390	400	410	420
KEELSGSLLQ	SVQEALEERS	LTIRSASEFQ	ELDSPDDTMG	TIKRAPFLGP	LPTDPPAEEP
430	440	450	460	470	480
LSSPPGTLPP	PPSGPNSSPL	LPTAWATMKQ	REDPERSSCH	GLPPTPKVHM	GACFSKVFNG
490	500	510	520	530	540
CPLRIHAAVT	WIHPVTRDQF	LVVGAEEGIY	TLNLHELHED	TLEKLISHRC	SWLYCVNNVL
550	560	570	580	590	600
LSLSGKSTHI	WAHDLPGLFE	QRRLQQQVPL	SIPTNRLTQR	IIPRRFALST	KIPDTKGCLQ
610	620	630	640	650	660
CRVVRNPYTG	ATFLLAALPT	SLLLLQWYEP	LQKFLLLKNF	SSPLPSPAGM	LEPLVLDGKE
670	680	690	700	710	720
LPQVCVGAEG	PEGPGCRVLF	HVLPLEAGLT	PDILIPPEGI	PGSAQQVIQV	DRDTILVSFE
730	740	750	760	770	780
RCVRIVNMQG	EPTATLAPEL	TFDFPIETVV	CLQDSVLAFW	SHGMQGRSLD	TNEVTQEITD
790	800	810
ETRIFRVLGA	HRDIILESIP	TDNPEAHSNL	YILTGHQSTY