AiPD: Autoinhibited Protein Database

P51957

Gene name	NEK4 (STK2)
Protein name	Serine/threonine-protein kinase Nek4
Names	Never in mitosis A-related kinase 4, NimA-related protein kinase 4, Serine/threonine-protein kinase 2, Serine/threonine-protein kinase NRK2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6787
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

259-380 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

259-380 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

148-171 (Activation loop from InterPro)

Target domain	6-261 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P51957

Entry ID	Method	Resolution	Chain	Position	Source
AF-P51957-F1	Predicted				AlphaFoldDB

679 variants for P51957

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs770418305 RCV000256411	673	I>missing	Ciliopathy [ClinVar]	Yes	ClinVar dbSNP
rs866548949 CA74805650	2	P>S		No	ClinGen TOPMed gnomAD
rs866548949 CA353177971	2	P>T		No	ClinGen TOPMed gnomAD
rs1483005585 CA353177933	4	A>V		No	ClinGen TOPMed
rs1450796029 CA353177917	5	A>V		No	ClinGen gnomAD
CA2446785 rs774411586	6	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs761660228 CA2446786	6	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA353177852 rs1366282943	8	Y>*		No	ClinGen TOPMed
rs533922432 CA2446784	9	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA74805617 rs965468861	9	L>V		No	ClinGen Ensembl
CA74805609 rs866261741	10	R>L		No	ClinGen TOPMed gnomAD
CA74805613 rs866261741	10	R>Q		No	ClinGen TOPMed gnomAD
CA353177825 rs1221524995	11	V>I		No	ClinGen gnomAD
rs1578718228 CA353177807	12	V>L		No	ClinGen Ensembl
rs749128065 CA2446783	16	S>N		No	ClinGen ExAC gnomAD
CA353177699 rs1301909055 CA353177702	16	S>R		No	ClinGen TOPMed gnomAD
CA74805603 rs867478237	19	E>*		No	ClinGen gnomAD
CA2446782 rs775089099	19	E>A		No	ClinGen ExAC TOPMed gnomAD
CA353177652 rs867478237	19	E>Q		No	ClinGen gnomAD
CA2446781 rs571241761	20	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1011704502 CA74805596	21	T>M		No	ClinGen TOPMed
rs1486966539 CA353177586	22	L>F		No	ClinGen gnomAD
rs1410497552 CA353177517	25	H>N		No	ClinGen gnomAD
rs780576006 CA2446779	25	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	26	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2446778 rs756861186	26	R>Q		No	ClinGen ExAC gnomAD
rs748592123 CA2446777	28	D>E		No	ClinGen ExAC gnomAD
rs1310313508 CA353177442	28	D>G		No	ClinGen TOPMed
rs1490499440 CA353177445	28	D>Y		No	ClinGen TOPMed gnomAD
CA74805576 rs779524634	29	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2446776 rs779524634	29	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2446774 rs754287482	30	K>E		No	ClinGen ExAC gnomAD
rs866902962 CA74805549	30	K>N		No	ClinGen Ensembl
rs754287482 CA353177404	30	K>Q		No	ClinGen ExAC gnomAD
CA74805548 rs953507943	31	Q>R		No	ClinGen TOPMed
rs1490005633 CA353176581	34	I>T		No	ClinGen TOPMed
CA2446759 rs565352473	34	I>V		No	ClinGen ExAC gnomAD
rs745519786 CA2446758	37	L>R		No	ClinGen ExAC gnomAD
rs1578714100 CA353176466	38	N>T		No	ClinGen Ensembl
rs776407088 CA2446757	39	L>F		No	ClinGen ExAC gnomAD
rs560443902 CA2446756	40	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353176432 rs1338917509	40	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1179458722 CA353176357	43	S>C		No	ClinGen gnomAD
rs199730489 CA2446755	45	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2446754 rs779250361	45	R>Q		No	ClinGen ExAC gnomAD
rs755565214 CA2446753	46	E>G		No	ClinGen ExAC gnomAD
CA353176291 rs1237485089	46	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2446750 rs753439121 COSM1753312	47	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2446751 rs780569606	47	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750596148 CA2446749 COSM1047143	48	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA74804256 rs764961340	48	R>Q		No	ClinGen Ensembl
CA353176211 rs1203899001	50	A>T		No	ClinGen gnomAD
CA353176112 rs1209727669	52	Q>E		No	ClinGen TOPMed gnomAD
CA543059686 rs1480067148	52	Q>P*		No	ClinGen gnomAD
CA353176100 rs1578713835	52	Q>R		No	ClinGen Ensembl
rs751689087 CA2446746	53	E>A		No	ClinGen ExAC gnomAD
CA2446747 rs757250522	53	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757250522 CA74804245	53	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2446745 rs763884940	56	L>P		No	ClinGen ExAC gnomAD
rs1245397572 CA353175894	59	Q>R		No	ClinGen gnomAD
CA2446744 rs144937048	60	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA74804206 rs11543008	64	N>D		No	ClinGen TOPMed
rs1314524583 CA353175639	64	N>T		No	ClinGen TOPMed
CA353175661 rs11543008	64	N>Y		No	ClinGen TOPMed
CA353175529 rs1395969348	67	T>A		No	ClinGen gnomAD
CA353175430 rs1248851875	69	K>R		No	ClinGen TOPMed
CA2446737 rs772792374	70	E>*		No	ClinGen ExAC TOPMed gnomAD
CA353175323 rs1386559959	72	W>R		No	ClinGen gnomAD
rs1578713563 CA353175174	75	G>R		No	ClinGen Ensembl
CA353175151 rs1559453699	75	G>V		No	ClinGen Ensembl
rs1578713531 CA353175132	76	D>G		No	ClinGen Ensembl
rs769218178 CA2446736	77	G>D		No	ClinGen ExAC gnomAD
rs770259048 CA2446733	80	Y>C		No	ClinGen ExAC gnomAD
rs1480481874 CA353174909	82	V>A		No	ClinGen TOPMed
rs1559453657 CA353174887	83	M>V		No	ClinGen Ensembl
rs200146700 CA74804104	89	G>S		No	ClinGen 1000Genomes
CA74804095 rs915193103	91	L>F		No	ClinGen Ensembl
CA353174631 rs1294059279	92	Y>*		No	ClinGen gnomAD
CA2446730 rs757519207	93	R>*		No	ClinGen ExAC TOPMed gnomAD
rs375390104 CA2446729	93	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	97	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2446728 rs777829988	98	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2446727 rs758535124	99	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1372467949 CA353174408	101	Q>R		No	ClinGen TOPMed
CA74804066 rs372401024	103	L>R		No	ClinGen Ensembl
rs1406680974 CA353174372	104	P>L		No	ClinGen gnomAD
CA353174351 rs1162083539	105	E>A		No	ClinGen gnomAD
CA2446723 rs180821211	107	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353174271 rs1452390905	109	V>I		No	ClinGen gnomAD
CA353174217 rs1336126490	110	E>A		No	ClinGen TOPMed
CA74804039 rs969082885	111	W>*		No	ClinGen Ensembl
rs1361753739 CA353174164	113	V>I		No	ClinGen gnomAD
rs1252996831 CA353174094	116	A>T		No	ClinGen gnomAD
rs572514993 CA2446721	116	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145975959 CA2446720	119	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353174015 rs1271637046	120	Q>L		No	ClinGen gnomAD
CA2446703 rs766191472	121	Y>C		No	ClinGen ExAC gnomAD
CA353173212 rs1226608666	122	L>F		No	ClinGen gnomAD
CA2446702 rs755919954	122	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1319742387 CA353173195	123	H>L		No	ClinGen gnomAD
rs750076497 CA2446701	123	H>Q		No	ClinGen ExAC gnomAD
CA353173205 rs1324558890	123	H>Y		No	ClinGen gnomAD
rs761364427 CA353173134	126	H>D		No	ClinGen ExAC TOPMed gnomAD
CA2446699 rs761364427	126	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1271476570 CA353173121	126	H>Q		No	ClinGen Ensembl
rs1468625663 CA353173126	126	H>R		No	ClinGen gnomAD
CA2446698 rs774018771	128	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1475385541 CA353173070	129	H>L		No	ClinGen gnomAD
CA2446697 rs141525620	129	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA74802888 rs1016628410	130	R>*		No	ClinGen TOPMed gnomAD
CA353173052 rs1195464703	130	R>Q		No	ClinGen gnomAD
rs760089918 CA2446696	131	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353173021 rs1376425619	132	L>V		No	ClinGen TOPMed
rs773322989 CA2446695	133	K>E		No	ClinGen ExAC gnomAD
CA353172945 rs1437168372	135	Q>R		No	ClinGen TOPMed
CA2446694 rs771309069	136	N>D		No	ClinGen ExAC gnomAD
rs1407930915 CA353172907	138	F>V		No	ClinGen Ensembl
rs1299722705 CA353172897	139	L>R		No	ClinGen gnomAD
CA74802880 rs896504421 COSM162872	140	T>A	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA74802877 rs1055110439	142	T>I		No	ClinGen Ensembl
rs747375884 CA2446693	143	N>S		No	ClinGen ExAC gnomAD
CA353172861 rs1559451959	144	I>L		No	ClinGen Ensembl
CA74802870 rs373761384	145	I>V		No	ClinGen ESP TOPMed gnomAD
rs1228569475 CA353172800	148	G>E		No	ClinGen gnomAD
rs748170330 CA2446690	153	A>S		No	ClinGen ExAC gnomAD
rs748170330 CA2446689	153	A>T		No	ClinGen ExAC gnomAD
CA353172751 rs1318238571	153	A>V		No	ClinGen gnomAD
CA2446687 rs370377370	154	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370377370 CA2446688	154	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755904931 CA2446685	154	R>P		No	ClinGen ExAC TOPMed gnomAD
rs755904931 CA2446684	154	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353172723 rs2230535	156	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767227136 CA2446682	158	N>S		No	ClinGen ExAC gnomAD
CA2446681 rs756981933	159	H>Y		No	ClinGen ExAC gnomAD
CA353172660 rs1403093283	162	M>V		No	ClinGen TOPMed gnomAD
CA353172644 rs1450241529	163	A>P		No	ClinGen gnomAD
rs147067004 CA2446679	164	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2446678 rs762422817	164	S>N		No	ClinGen ExAC gnomAD
CA353172616 rs762422817	164	S>T		No	ClinGen ExAC gnomAD
rs777169522 CA2446677	165	T>A		No	ClinGen ExAC
CA74802842 rs919054678	167	I>T		No	ClinGen TOPMed gnomAD
CA74802839 rs976008612	170	P>L		No	ClinGen Ensembl
CA2446675 rs760980667	171	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs965927095 CA74802835	171	Y>C		No	ClinGen Ensembl
rs1435847671 CA353172435	172	Y>C		No	ClinGen gnomAD
rs773581679 CA2446673	173	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2446672 rs772215659	174	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1017512733 CA74802824	179	S>A		No	ClinGen Ensembl
rs528293777 CA2446671	179	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774612882 CA2446670	180	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1559451709 CA353172066	182	P>A		No	ClinGen Ensembl
CA2446667 rs749365739	183	Y>*		No	ClinGen ExAC gnomAD
CA2446668 rs768759100	183	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA2446665 rs779295565	185	Y>*		No	ClinGen ExAC gnomAD
rs200500262 CA2446666	185	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1310167833 CA353171906	186	K>E		No	ClinGen gnomAD
CA353171867 rs1578708094	186	K>N		No	ClinGen Ensembl
CA2446655 rs774378130	188	D>V		No	ClinGen ExAC gnomAD
CA353171560 rs1559451499	190	W>C		No	ClinGen Ensembl
CA353171527 rs1559451494	191	A>V		No	ClinGen Ensembl
rs1559451476 CA353171506	192	L>P		No	ClinGen Ensembl
CA353171400 rs1578707657	195	C>F		No	ClinGen Ensembl
rs1317651910 CA353171408	195	C>S		No	ClinGen gnomAD
rs1414408785 CA353171215	201	T>S		No	ClinGen gnomAD
rs767856624 CA2446652	202	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2446651 rs762213830	207	N>D		No	ClinGen ExAC gnomAD
CA2446650 rs202108231	207	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2446649 rs140931278	209	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763039392 CA2446648	210	D>N		No	ClinGen ExAC gnomAD
rs763039392 CA353171024 COSM1047139	210	D>Y	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs896765821 CA74802704	211	M>I		No	ClinGen TOPMed gnomAD
CA2446646 rs769785712	211	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2446647 rs769785712	211	M>R		No	ClinGen ExAC TOPMed gnomAD
CA353170985 rs769785712	211	M>T		No	ClinGen ExAC TOPMed gnomAD
CA353170988 rs1466000683	211	M>V		No	ClinGen gnomAD
rs1323260547 CA353170874	213	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	213	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323260547 CA353170895	213	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353170855 rs1282009631	214	L>S		No	ClinGen gnomAD
CA2446645 rs745791470	216	Y>F		No	ClinGen ExAC gnomAD
CA74802698 rs779390122	217	R>Q		No	ClinGen TOPMed gnomAD
CA2446643 rs200701452	217	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770822899 CA2446642	219	I>V		No	ClinGen ExAC gnomAD
rs1456517188 CA353170635	222	K>E		No	ClinGen TOPMed
rs776674608 CA2446625	224	P>A		No	ClinGen ExAC gnomAD
rs1029871 CA2446624 VAR_040915	225	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1029871 CA353169568	225	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1029871 CA353169569	225	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353169547 rs1442425229	226	M>V		No	ClinGen TOPMed gnomAD
CA2446622 rs772889417	227	P>R		No	ClinGen ExAC gnomAD
rs1559449396 CA353169500	228	R>T		No	ClinGen Ensembl
rs771971349 CA2446620	229	D>G		No	ClinGen ExAC gnomAD
rs754453537 CA353169188	238	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1275468155 CA353169193	238	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353169196 rs1344864502	238	I>V		No	ClinGen gnomAD
CA2446615 rs35778416 VAR_040916	239	R>G		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1251859077 CA353169152	239	R>I		No	ClinGen TOPMed
rs777334017 CA2446614	240	T>P		No	ClinGen ExAC TOPMed gnomAD
CA74801429 rs201283699	243	S>G		No	ClinGen 1000Genomes
CA2446610 rs764357487	249	R>S		No	ClinGen ExAC gnomAD
VAR_040917 rs56408749 CA2446609	250	P>L		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA353168829 rs56408749	250	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74801403 rs112088437	251	S>F		No	ClinGen Ensembl
rs1026943141 CA74801398	253	R>S		No	ClinGen TOPMed gnomAD
rs1422187314 CA353168732	254	S>N		No	ClinGen gnomAD
CA2446606 rs565173568	256	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1418077493 CA353168634	257	R>G		No	ClinGen gnomAD
CA2446605 rs776868546	257	R>K		No	ClinGen ExAC gnomAD
CA353168590 rs1388102148	258	Q>R		No	ClinGen TOPMed
CA2446602 rs773261136	263	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760526340 COSM1186323 CA2446603	263	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2446600 rs545019249	266	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2446601 rs545019249	266	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1301605274 CA353168253	266	S>P		No	ClinGen TOPMed
rs752524765 CA74801359	267	F>S		No	ClinGen Ensembl
CA74801358 rs748487681	268	F>S		No	ClinGen gnomAD
CA353168122 rs1340521223	269	L>S		No	ClinGen TOPMed
TCGA novel	269	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74801350 rs961040506	270	E>K		No	ClinGen Ensembl
CA353167946 rs1245805119	272	T>A		No	ClinGen gnomAD
rs149674873 CA2446597	274	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149674873 CA2446596	274	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA74799164 rs868091702	276	T>A		No	ClinGen TOPMed
CA353166433 rs1386061171	276	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353166432 rs1386061171	276	T>N		No	ClinGen TOPMed gnomAD
CA2446576 rs768230593	277	S>C		No	ClinGen ExAC gnomAD
rs1389851215 CA353166374	279	N>S		No	ClinGen gnomAD
rs1176091407 CA353166360	280	N>D		No	ClinGen gnomAD
rs762586566 CA2446575	281	I>F		No	ClinGen ExAC gnomAD
CA2446574 rs775176848	281	I>M		No	ClinGen ExAC gnomAD
rs762586566 CA353166319	281	I>V		No	ClinGen ExAC gnomAD
CA74799142 rs890570023	282	K>*		No	ClinGen TOPMed
CA353166279 rs1427977406	283	N>S		No	ClinGen gnomAD
CA353166282 rs1199727291	283	N>Y		No	ClinGen gnomAD
rs769162317 CA2446573	284	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2446572 rs745421103	287	Q>*		No	ClinGen ExAC gnomAD
CA2446571 rs772572206	288	S>A		No	ClinGen ExAC gnomAD
rs772649466 CA2446570	290	P>S		No	ClinGen ExAC
rs1471654410 CA353165915	295	V>F		No	ClinGen TOPMed gnomAD
CA353165854 COSM1579327 rs1256493217	296	S>C	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2446567 rs755451946	297	G>R		No	ClinGen ExAC gnomAD
rs746455096 CA353165816	298	E>D		No	ClinGen gnomAD
rs1559447247 CA353165766	301	S>P		No	ClinGen Ensembl
CA2446565 rs780365839	302	N>I		No	ClinGen ExAC TOPMed gnomAD
CA353165560 rs1333961597	306	I>V		No	ClinGen TOPMed gnomAD
rs756106216 CA2446564	307	H>P		No	ClinGen ExAC gnomAD
rs750536100 CA2446563	308	P>R		No	ClinGen ExAC gnomAD
rs139449613 CA2446561	309	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2446559 rs751561403	310	P>R		No	ClinGen ExAC gnomAD
rs1037636522 CA74799098	310	P>S		No	ClinGen TOPMed
CA2446556 rs35580792	314	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763858832 CA2446557	314	E>Q		No	ClinGen ExAC gnomAD
rs1185204055 CA353165231	315	G>D		No	ClinGen gnomAD
CA353165241 rs1452649397	315	G>S		No	ClinGen TOPMed
rs1204464437 CA353165226	316	S>A		No	ClinGen TOPMed
rs757407528 CA74799092	319	Y>C		No	ClinGen Ensembl
rs1384285813 CA353165094	320	I>M		No	ClinGen TOPMed
CA2446554 rs769511464	320	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2446539 rs751473373	322	G>V		No	ClinGen ExAC TOPMed gnomAD
CA353162961 rs1356545832	323	E>D		No	ClinGen gnomAD
rs1285187416 CA353162946	324	G>S		No	ClinGen TOPMed gnomAD
CA2446536 rs752504984	326	C>R		No	ClinGen ExAC gnomAD
CA74792793 rs981249735	326	C>Y		No	ClinGen Ensembl
CA2446535 rs764732912	329	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1455796410 CA353162696	329	Q>R		No	ClinGen TOPMed gnomAD
CA2446533 rs759226181	330	E>*		No	ClinGen ExAC gnomAD
CA353162571 rs1578679698	331	K>N		No	ClinGen Ensembl
CA353162535 rs1179706542	332	P>L		No	ClinGen TOPMed
rs776208902 CA2446532	334	A>V		No	ClinGen ExAC gnomAD
CA353162456 rs1158276144	335	S>P		No	ClinGen gnomAD
CA353162329 rs1477610677	340	S>L		No	ClinGen gnomAD
rs774959821 CA2446528	340	S>P		No	ClinGen ExAC gnomAD
rs778837018 CA2446526	343	S>N		No	ClinGen ExAC TOPMed gnomAD
CA353162193 rs1451639696	344	L>P		No	ClinGen gnomAD
rs1208589070 CA353162157	346	A>S		No	ClinGen TOPMed gnomAD
CA353162151 rs1208589070	346	A>T		No	ClinGen TOPMed gnomAD
rs1358320918 CA353162130	347	H>R		No	ClinGen TOPMed
rs770577123 CA2446524	349	C>G		No	ClinGen ExAC gnomAD
CA2446523 rs746086484	349	C>Y		No	ClinGen ExAC gnomAD
rs374806162 CA353162054	351	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374806162 CA2446522	351	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301296416 CA353162050	351	Q>P		No	ClinGen TOPMed
CA353162034 rs1415474762	352	D>G		No	ClinGen TOPMed
rs111406927 CA74792749	354	S>G		No	ClinGen Ensembl
CA2446520 rs747119472	354	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1578679431 CA353161975	356	T>I		No	ClinGen Ensembl
CA353161980 rs1578679446	356	T>P		No	ClinGen Ensembl
rs1438913095 CA353161973	357	T>A		No	ClinGen gnomAD
VAR_040918 rs2230537 CA2446519	357	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	358	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319984623 CA353161902	361	T>P		No	ClinGen gnomAD
rs758338516 CA2446518	362	I>N		No	ClinGen ExAC TOPMed gnomAD
CA74792731 rs758338516	362	I>S		No	ClinGen ExAC TOPMed gnomAD
CA353161876 rs1455510068	362	I>V		No	ClinGen gnomAD
CA2446517 rs752648674	364	S>I		No	ClinGen ExAC TOPMed gnomAD
CA353161803 rs752648674	364	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2446515 rs754779685	365	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1192487561 CA353161715	367	I>V		No	ClinGen TOPMed
rs574702003 CA74792718	368	D>N		No	ClinGen Ensembl
rs866321024 CA74792713	369	I>N		No	ClinGen Ensembl
CA2446514 rs367778423	369	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353161566 rs373596899	371	P>S		No	ClinGen ESP ExAC gnomAD
rs373596899 CA2446512	371	P>T		No	ClinGen ESP ExAC gnomAD
CA353161533 rs1194259610	372	A>T		No	ClinGen TOPMed
CA353161515 rs1424438814	373	K>*		No	ClinGen TOPMed
rs763549025 CA2446510	374	G>A		No	ClinGen ExAC gnomAD
CA2446509 rs763549025	374	G>E		No	ClinGen ExAC gnomAD
CA2446511 rs772859657	374	G>R		No	ClinGen ExAC gnomAD
CA2446506 COSM283199 rs770168568	379	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA353161256 rs1255363770	380	D>A		No	ClinGen TOPMed gnomAD
rs201270296 CA2446503	384	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747027271 CA2446502	385	E>*		No	ClinGen ExAC gnomAD
TCGA novel	385	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777828147 CA2446501	386	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1321098578 CA353160863	388	P>L		No	ClinGen TOPMed gnomAD
CA353160808 rs1357157582	390	Y>N		No	ClinGen gnomAD
CA2446497 rs754764185	393	A>G		No	ClinGen ExAC gnomAD
rs1207742319 CA353160670	393	A>T		No	ClinGen gnomAD
rs753599638 CA2446496	398	G>E		No	ClinGen ExAC gnomAD
rs267599895 CA74792667	398	G>R		No	ClinGen Ensembl
rs779794006 CA2446495	399	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1484667297 CA353160357	400	I>V		No	ClinGen gnomAD
rs1248139319 CA353160304	401	C>F		No	ClinGen gnomAD
CA2446494 rs755831854	401	C>R		No	ClinGen ExAC gnomAD
rs1187562586 CA353160254	402	S>N		No	ClinGen gnomAD
CA353160270 rs1187562586	402	S>T		No	ClinGen gnomAD
CA353160098 rs1367589380	404	S>F		No	ClinGen TOPMed
rs1236018574 CA353159998	408	E>K		No	ClinGen TOPMed gnomAD
CA74792662 rs1000369428	409	E>V		No	ClinGen Ensembl
rs1281085352 CA353159897	410	M>V		No	ClinGen TOPMed
rs761274201 CA2446491	412	Q>*		No	ClinGen ExAC gnomAD
rs761274201 CA2446492	412	Q>E		No	ClinGen ExAC gnomAD
CA74792649 rs113557128	414	N>D		No	ClinGen Ensembl
CA353159663 rs1226508884	415	T>I		No	ClinGen gnomAD
rs1344349123 CA353159587	417	S>F		No	ClinGen gnomAD
CA2446489 rs765691634	418	S>G		No	ClinGen ExAC TOPMed gnomAD
rs369060197 CA2446487	418	S>I		No	ClinGen ExAC gnomAD
rs369060197 CA2446488	418	S>T		No	ClinGen ExAC gnomAD
rs760878294 CA2446485	420	Q>H		No	ClinGen ExAC gnomAD
rs138123331 CA2446484	421	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM162873 CA2446483 rs140578743	422	E>K	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA353159328 rs1320259522	424	L>P		No	ClinGen gnomAD
rs370946592 CA74792625	425	I>M		No	ClinGen ESP
rs748209627 CA2446482	427	M>T		No	ClinGen ExAC gnomAD
rs146877089 CA74792616	428	W>*		No	ClinGen ESP gnomAD
CA74792619 rs575698152	428	W>*		No	ClinGen 1000Genomes
CA2446480 rs376650906	430	S>F		No	ClinGen ESP ExAC gnomAD
rs1192867950 CA353159024	431	D>A		No	ClinGen TOPMed
CA353158939 rs1438882076	433	V>L		No	ClinGen TOPMed
CA2446478 rs779988639	435	G>V		No	ClinGen ExAC gnomAD
rs750078366 CA2446476	436	E>K		No	ClinGen ExAC gnomAD
CA353158728 rs1358915870	437	K>E		No	ClinGen TOPMed
CA353158622 rs1244143711	439	E>D		No	ClinGen gnomAD
TCGA novel	439	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353158594 rs1320049350	440	P>L		No	ClinGen gnomAD
CA74792601 rs939394955	441	V>M		No	ClinGen Ensembl
rs953093777 CA74792599	443	P>R		No	ClinGen TOPMed
rs751051307 CA2446472	445	Q>H		No	ClinGen ExAC gnomAD
rs756748397 CA2446473	445	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs765715530 CA2446471	446	P>L		No	ClinGen ExAC gnomAD
CA353158331 rs1411202402	447	L>Q		No	ClinGen gnomAD
rs1370779293 CA353158318	448	I>V		No	ClinGen gnomAD
rs1045044328 CA74792587	452	K>N		No	ClinGen Ensembl
CA353158143 rs1393115584	452	K>R		No	ClinGen gnomAD
CA353158119 rs930731896	453	P>A		No	ClinGen gnomAD
CA74792584 rs930731896	453	P>S		No	ClinGen gnomAD
CA353158059 rs1167473925	454	K>E		No	ClinGen gnomAD
CA74792583 rs997131627	455	D>G		No	ClinGen TOPMed
rs56019351 CA2446470 VAR_040919	456	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA74791290 rs548775369	461	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs528531638 CA74791275	462	P>H		No	ClinGen 1000Genomes
CA353156632 rs1210554518	463	K>M		No	ClinGen TOPMed gnomAD
rs1210554518 CA353156628	463	K>R		No	ClinGen TOPMed gnomAD
rs1256912272 CA353156613	464	L>P		No	ClinGen TOPMed
CA353156409 rs1484948394	469	T>I		No	ClinGen TOPMed
CA2446460 rs780189300	470	I>V		No	ClinGen ExAC gnomAD
CA353156345 rs1230535175	471	L>*		No	ClinGen gnomAD
CA353156344 rs1230535175	471	L>S		No	ClinGen gnomAD
rs1016562606 CA74791239	473	H>Q		No	ClinGen TOPMed gnomAD
rs898388233 CA74791245	473	H>Y		No	ClinGen TOPMed gnomAD
CA353156188 rs1578673920	474	S>C		No	ClinGen Ensembl
CA353156156 rs1578673909	475	N>T		No	ClinGen Ensembl
rs1363819003 CA353156118	476	L>F		No	ClinGen gnomAD
CA74791229 rs559819855	477	R>C		No	ClinGen 1000Genomes gnomAD
CA353156074 rs1319083244	477	R>H		No	ClinGen TOPMed gnomAD
rs1430008958 CA353156059	478	L>F		No	ClinGen TOPMed
CA353156042 rs1384443874	479	L>P		No	ClinGen gnomAD
rs1384443874 CA353156032	479	L>Q		No	ClinGen gnomAD
CA353156034 rs1384443874	479	L>R		No	ClinGen gnomAD
CA353156006 rs1373117764	480	G>D		No	ClinGen TOPMed
CA353155871 rs1464914780	483	D>G		No	ClinGen gnomAD
CA74791208 rs1039505206	485	P>L		No	ClinGen TOPMed gnomAD
rs1448904259 CA353155783	486	A>V		No	ClinGen gnomAD
rs1246292078 CA353155767	487	S>L		No	ClinGen gnomAD
rs1334800715 CA353155718	490	R>*		No	ClinGen TOPMed
CA2446459 rs189287859	490	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74791178 rs983218302	494	I>N		No	ClinGen TOPMed gnomAD
CA353155585 rs983218302	494	I>T		No	ClinGen TOPMed gnomAD
rs1255471979 CA353155544	495	T>I		No	ClinGen TOPMed gnomAD
rs1280560367 CA353155494	497	V>A		No	ClinGen gnomAD
rs532405462 CA353155503	497	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs532405462 CA74791168	497	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA353155482 rs1379086471	498	C>*		No	ClinGen TOPMed gnomAD
rs1202679875 CA353155488	498	C>R		No	ClinGen TOPMed
rs770001642 CA74791159	500	H>Q		No	ClinGen TOPMed
rs1039175460 CA74791151	501	A>P		No	ClinGen TOPMed gnomAD
rs1039175460 CA353155419	501	A>T		No	ClinGen TOPMed gnomAD
rs1578667794 CA353154347	504	Q>E		No	ClinGen Ensembl
CA74788909 rs1027254487	504	Q>R		No	ClinGen Ensembl
CA74788892 rs947499784	506	A>P		No	ClinGen TOPMed gnomAD
rs372629459 CA2446447	508	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750800772 CA2446445	509	C>G		No	ClinGen ExAC TOPMed gnomAD
rs750800772 CA2446446	509	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1243835206 CA353154232	509	C>S		No	ClinGen TOPMed
CA2446443 rs761934347	511	I>T		No	ClinGen ExAC gnomAD
rs532796080 CA2446444	511	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1475687231 CA353154151	512	E>G		No	ClinGen TOPMed
rs1468576250 CA353154113	514	Q>*		No	ClinGen gnomAD
rs1561313198 CA353154086	515	G>S		No	ClinGen Ensembl
CA2446441 rs145192979	517	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545339058 CA353153990	518	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545339058 CA2446440	518	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745597302 CA2446437	524	H>Q		No	ClinGen ExAC gnomAD
rs776292752 CA2446436	525	N>S		No	ClinGen ExAC gnomAD
CA353153823 rs1403541232	526	S>P		No	ClinGen TOPMed gnomAD
CA353153796 rs1400260532	527	G>V		No	ClinGen TOPMed
CA353153754 rs1561313088	530	P>L		No	ClinGen Ensembl
rs201029132 CA2446433 COSM1692830	534	R>*	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs747680044 CA2446431	534	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747680044 CA2446432	534	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1432835958 CA353153683	535	Q>H		No	ClinGen TOPMed gnomAD
CA2446430 rs780482907	536	R>*		No	ClinGen ExAC gnomAD
rs1049984213 CA74788820	536	R>P		No	ClinGen TOPMed
rs1049984213 CA353153677	536	R>Q		No	ClinGen TOPMed
rs750998173 COSM1424571 CA2446428	537	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2446429 rs377177784	537	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2446426 rs149958844	538	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187367558	541	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1285710438 CA353153603	541	R>K		No	ClinGen TOPMed
rs1447543749 CA353153556	542	E>G		No	ClinGen TOPMed
rs199859350 CA2446424	544	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA353153423 rs1485180318	546	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2446422 rs763074614	546	H>Y		No	ClinGen ExAC gnomAD
CA74788785 rs758211058	547	R>G		No	ClinGen gnomAD
CA74788780 rs745835438	547	R>I		No	ClinGen TOPMed gnomAD
CA2446421 rs147428920	547	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353153141 rs1578667172	552	Q>*		No	ClinGen Ensembl
CA2446419 rs759535945	552	Q>R		No	ClinGen ExAC gnomAD
rs776682747 CA2446418	553	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770605263 CA2446417	554	R>C		No	ClinGen ExAC gnomAD
CA2446416 rs142826971	554	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA353152984 rs1387173062	556	D>V		No	ClinGen TOPMed
rs1420856802 CA353152963	557	L>P		No	ClinGen TOPMed
rs1226367418 CA353152907	559	A>V		No	ClinGen gnomAD
CA74788355 rs548176402	563	S>L		No	ClinGen TOPMed
CA74788336 rs373012760	565	P>L		No	ClinGen ESP
rs781502891 CA2446387	565	P>S		No	ClinGen ExAC gnomAD
rs771482582 CA2446386 COSM3596211	566	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747269522 CA2446385	566	R>Q		No	ClinGen ExAC gnomAD
VAR_040920 CA2446384 rs34986855	567	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	570	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2446382 rs752938431	570	S>Y		No	ClinGen ExAC gnomAD
rs531858460 CA2446381	571	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1175735944 CA353151668	573	I>V		No	ClinGen gnomAD
rs766166059 CA2446376	577	V>A		No	ClinGen ExAC TOPMed gnomAD
rs563056783 CA2446377	577	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA353151430 rs563056783	577	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs748387811 CA74788310	579	V>A		No	ClinGen Ensembl
rs1233651270 CA353151364	579	V>I		No	ClinGen gnomAD
CA353151316 rs1349691121	580	T>R		No	ClinGen gnomAD
CA2446373 rs767275745	583	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs750388223 CA2446374	583	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA353151133 rs1490324543	585	E>A		No	ClinGen TOPMed
rs1292435464 CA353151103	586	A>S		No	ClinGen gnomAD
CA2446370 rs768314790	589	Q>H		No	ClinGen ExAC
CA2446371 rs773949439	589	Q>K		No	ClinGen ExAC gnomAD
rs1167789362 CA353151019	589	Q>R		No	ClinGen gnomAD
CA2446369 rs778767903	590	R>C		No	ClinGen ExAC TOPMed gnomAD
rs140752930 CA2446367	590	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140752930 CA2446368	590	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs754472410 CA74788271	591	R>G		No	ClinGen Ensembl
rs1179851533 CA353150953	591	R>K		No	ClinGen TOPMed gnomAD
CA353150840 rs1176208894	594	T>S		No	ClinGen TOPMed
CA2446365 rs150957144	596	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748545769 CA2446363	598	S>R		No	ClinGen ExAC
TCGA novel	600	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755237491 CA2446361	601	R>S		No	ClinGen ExAC gnomAD
CA353150659 rs1251302446	602	S>N		No	ClinGen TOPMed
CA353150652 rs1254781931	602	S>R		No	ClinGen gnomAD
CA2446360 rs749543490	603	S>G		No	ClinGen ExAC TOPMed gnomAD
CA74788249 rs141109721	603	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141109721 CA2446359	603	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2446358 rs756200197	605	M>I		No	ClinGen ExAC TOPMed gnomAD
CA353150569 rs1258750360	605	M>L		No	ClinGen gnomAD
rs1300228180 CA353150487	607	S>*		No	ClinGen gnomAD
CA2446332 rs183334039	610	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2446331 rs764821008 COSM1719645	611	R>*	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353149433 rs764821008	611	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2446330 rs201793694	611	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1255238589 CA353149408	612	P>T		No	ClinGen gnomAD
rs776285364 CA2446329	613	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	618	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766058846 CA2446328	618	R>K		No	ClinGen ExAC gnomAD
COSM3408804 rs775049834 CA2446326	620	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA74787262 rs769037062	620	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2446325 rs769037062	620	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA353149088 rs763256547	623	Q>*		No	ClinGen ExAC gnomAD
CA2446324 rs763256547	623	Q>K		No	ClinGen ExAC gnomAD
rs1377485883 CA353149037	624	S>*		No	ClinGen gnomAD
CA353149022 rs775729740	625	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2446323 rs775729740	625	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA2446321 rs745877601	628	M>I		No	ClinGen ExAC gnomAD
CA2446322 rs769917822	628	M>R		No	ClinGen ExAC gnomAD
CA353148815 rs1462441719	629	S>F		No	ClinGen TOPMed gnomAD
CA353148859 rs571094373	629	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2446320 rs571094373	629	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185514639 CA353148805	630	S>P		No	ClinGen gnomAD
CA353148735 rs1476093963	631	S>*		No	ClinGen gnomAD
CA2446298 rs771909270	633	P>S		No	ClinGen ExAC gnomAD
rs1475953732 CA353148290	636	R>K		No	ClinGen TOPMed
CA74786910 rs528461698	637	K>N		No	ClinGen 1000Genomes gnomAD
rs559285627 CA2446295	638	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2446293 rs779886352	640	L>V		No	ClinGen ExAC gnomAD
rs1398794089 CA353148076	641	S>N		No	ClinGen TOPMed gnomAD
CA2446291 rs755633588	641	S>R		No	ClinGen ExAC gnomAD
rs1398794089 CA353148072	641	S>T		No	ClinGen TOPMed gnomAD
rs1395282784 CA353148039	642	V>I		No	ClinGen TOPMed
CA353147987 rs1310807592	643	A>E		No	ClinGen TOPMed
CA353147977 rs1353824082	644	G>R		No	ClinGen TOPMed
CA353147842 rs1416782075	647	K>E		No	ClinGen TOPMed
CA353147775 rs1294130964	649	Q>*		No	ClinGen TOPMed
rs1307049231 CA353147758	649	Q>R		No	ClinGen TOPMed
rs749912464 CA2446290	651	E>D		No	ClinGen ExAC gnomAD
rs764590175 CA2446289	652	D>E		No	ClinGen ExAC TOPMed
rs1409750830 CA353147638	652	D>G		No	ClinGen gnomAD
CA353147669 rs1169698033	652	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2446287 rs763361832	653	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA353147569 rs1247866279	654	P>R		No	ClinGen gnomAD
rs1215496582 CA353147523	655	L>F		No	ClinGen gnomAD
rs753303701 CA2446286	656	P>R		No	ClinGen ExAC gnomAD
CA353147396 rs1286562315	657	A>S		No	ClinGen gnomAD
rs765561559 CA2446285	658	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2446284 rs759932343	658	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200698397 CA2446283	659	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200143654 CA2446281	659	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2446282 rs200698397	659	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2446280 rs773161176	661	S>P		No	ClinGen ExAC gnomAD
CA2446279 rs772255532	662	S>F		No	ClinGen ExAC gnomAD
CA2446277 rs774389028	666	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1433722232 CA353146962	667	T>N		No	ClinGen gnomAD
rs1255630397 CA353146049	672	Q>*		No	ClinGen gnomAD
rs567534614 CA2446265	672	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA353145960 rs1483590166	674	H>Y		No	ClinGen TOPMed gnomAD
CA353145898 rs1250837206	675	C>R		No	ClinGen gnomAD
rs754208361 CA2446263	675	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA2446261 rs576529016	677	S>P		No	ClinGen ExAC TOPMed gnomAD
rs773536027 CA2446259	681	L>V		No	ClinGen ExAC
CA2446258 rs767467595	682	S>T		No	ClinGen ExAC gnomAD
TCGA novel	684	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353145569 rs1294697123	685	T>A		No	ClinGen TOPMed gnomAD
rs761986836 CA2446257	685	T>I		No	ClinGen ExAC
CA353145552 rs1578656821	686	S>G		No	ClinGen Ensembl
CA2446255 rs774385294	686	S>T		No	ClinGen ExAC gnomAD
CA353145343 rs1212023925 COSM313187	691	S>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2446253 rs749021904	693	G>E		No	ClinGen ExAC gnomAD
CA2446252 rs775416176	694	D>G		No	ClinGen ExAC gnomAD
TCGA novel	695	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769765502 CA2446251	696	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2446250 rs745485354	698	G>E		No	ClinGen ExAC gnomAD
rs1217524475 CA353144263	699	K>E		No	ClinGen gnomAD
CA74784610 rs1056187560	699	K>R		No	ClinGen Ensembl
rs939324588 CA74784591	703	N>S		No	ClinGen TOPMed
CA74784589 rs1021455990	705	I>V		No	ClinGen TOPMed
CA353144025 rs1327472720	708	L>F		No	ClinGen TOPMed
rs905103828 CA74784585	709	V>I		No	ClinGen TOPMed gnomAD
rs375206563 CA74784574	710	Q>H		No	ClinGen TOPMed
TCGA novel	712	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765124227 CA2446225	712	M>V		No	ClinGen ExAC gnomAD
CA353143876 rs1304103385	714	Q>H		No	ClinGen gnomAD
CA74784552 rs555240005	714	Q>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA74784555 rs555240005	714	Q>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs780574844 CA2446224	717	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1029055806 CA74784540	719	D>Y		No	ClinGen TOPMed gnomAD
CA353143636 rs1287275608	723	S>T		No	ClinGen gnomAD
CA74784536 rs997538234	726	D>E		No	ClinGen TOPMed
CA353143556 rs1340866904	726	D>G		No	ClinGen TOPMed
rs756388208 CA2446223	727	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2446222 rs143988179	728	P>A		No	ClinGen ESP ExAC gnomAD
CA2446221 rs144511046	728	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353143458 rs1396774408	730	A>S		No	ClinGen gnomAD
TCGA novel	732	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353143408 rs1427650718	733	V>A		No	ClinGen TOPMed gnomAD
rs1323896136 CA353143357	735	E>A		No	ClinGen gnomAD
rs1262125184 CA353143322	736	F>S		No	ClinGen TOPMed gnomAD
CA2446218 rs764243996	737	K>R		No	ClinGen ExAC TOPMed gnomAD
rs368976533 CA2446217	739	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1047129 CA2446215 rs765240952	740	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752642184 CA2446216	740	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2446211 rs760299908 COSM191346	743	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs770689317 COSM1047127 CA2446212	743	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2446210 rs772895170	744	D>E		No	ClinGen ExAC TOPMed gnomAD
rs771533062 CA2446209	749	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747683504 CA2446208	750	G>E		No	ClinGen ExAC TOPMed gnomAD
rs761492968 CA74784438	751	K>Q		No	ClinGen Ensembl
CA353143052 rs1339441586	751	K>R		No	ClinGen TOPMed
CA353142980 rs1199852192	754	E>G		No	ClinGen TOPMed
rs780371568 CA2446207	757	E>D		No	ClinGen ExAC gnomAD
CA74784434 rs141982103	757	E>K		No	ClinGen ESP TOPMed
rs529984671 CA74784424	759	I>M		No	ClinGen gnomAD
CA2446206 rs770335878	760	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2446205 rs746425255	763	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2446203 rs146157054	763	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372005398 CA2446204	763	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA74784411 rs938351710	765	P>R		No	ClinGen TOPMed
CA353142540 rs1185380331	765	P>S		No	ClinGen gnomAD
rs1185380331 CA353142546	765	P>T		No	ClinGen gnomAD
TCGA novel	766	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1538446 rs747398738 CA2446177	768	I>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758697945 CA2446175	769	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2446174 rs748377374	770	P>A		No	ClinGen ExAC gnomAD
CA353141386 rs1406923279	772	S>Y		No	ClinGen gnomAD
CA2446173 rs143790506	774	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157662255 CA353141295	775	I>T		No	ClinGen gnomAD
VAR_040921	777	R>K	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	779	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353141215 rs1313785351	779	V>I		No	ClinGen TOPMed
rs1180980069 CA353141125	781	V>I		No	ClinGen gnomAD
rs907947419 CA74783256	784	T>A		No	ClinGen TOPMed
rs766251863 CA2446170	788	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2446168 rs138000848	788	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2446169 rs138000848	788	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290802641 CA353140741	793	Q>E		No	ClinGen gnomAD
rs761438028 CA2446166	794	L>F		No	ClinGen ExAC gnomAD
rs773921891 CA2446165	797	Q>R		No	ClinGen ExAC gnomAD
rs763625346 CA2446164 CA353140493	798	V>L		No	ClinGen ExAC TOPMed gnomAD
CA74783190 rs938022483	800	D>G		No	ClinGen TOPMed
CA353140369 rs1241040170	801	L>V		No	ClinGen gnomAD
rs777145290 CA2446162	803	E>A		No	ClinGen ExAC gnomAD
CA353140258 rs777145290	803	E>G		No	ClinGen ExAC gnomAD
CA353140234 rs1350273977	805	E>D		No	ClinGen gnomAD
rs771579155 CA2446161	806	D>G		No	ClinGen ExAC gnomAD
rs1471829055 CA353140141	808	F>V		No	ClinGen TOPMed
CA2446159 rs747310804	809	D>G		No	ClinGen ExAC TOPMed gnomAD
CA353140092 rs1362136069	809	D>H		No	ClinGen gnomAD
CA353140088 rs747310804	809	D>V		No	ClinGen ExAC TOPMed gnomAD
CA353140046 rs1465554281	810	R>T		No	ClinGen TOPMed
CA2446157 rs752678988	811	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1399302929 CA353175822	812	V>A		No	ClinGen TOPMed
rs187332751 CA2446120	813	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353175808 rs187332751	813	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182485847 CA2446118	813	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353175729 rs141150064	815	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141150064 CA2446116 COSM1424567	815	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2446117 rs534275346	815	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1380694752 CA353175636	818	M>V		No	ClinGen gnomAD
rs750912632 CA2446114	822	Y>C		No	ClinGen ExAC gnomAD
rs768155503 CA2446113	824	T>N		No	ClinGen ExAC gnomAD
TCGA novel CA908130768 rs1206639612	825	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs1228358452 CA353175231	826	S>I		No	ClinGen TOPMed gnomAD
rs1228358452 CA353175233	826	S>T		No	ClinGen TOPMed gnomAD
CA353175215 rs1298045184	827	V>M		No	ClinGen gnomAD
COSM1424566 rs56168225 CA2446112	830	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs56168225 CA74797881	830	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769126890 COSM731045 CA2446110	830	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769126890 CA2446111	830	R>L		No	ClinGen ExAC TOPMed gnomAD
CA74797876 rs763564376 COSM3824352	832	L>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	834	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	836	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553913836 CA353174260	838	N>D		No	ClinGen Ensembl
CA2446108 rs775725277	838	N>T		No	ClinGen ExAC gnomAD
COSM1047125 rs1578608281 CA353174194	839	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs142633896 CA353174221	839	M>K		No	ClinGen ESP gnomAD
CA74797874 rs917607676	839	M>L		No	ClinGen Ensembl
rs142633896 CA74797869	839	M>T		No	ClinGen ESP gnomAD
CA2446107 rs769822247	840	N>T		No	ClinGen ExAC gnomAD
CA2446106 rs745966590	841	F>C		No	ClinGen ExAC gnomAD
CA2446104 rs770777005	842	F>C		No	ClinGen ExAC gnomAD
CA2446105 rs781049128	842	F>G		No	ClinGen ExAC gnomAD

No associated diseases with P51957

3 regional properties for P51957

Type	Name	Position	InterPro Accession
domain	Cyclin, N-terminal	64 - 158	IPR006671
domain	Cyclin-like domain	62 - 152	IPR013763
domain	Cyclin, C-terminal domain 2	162 - 260	IPR031658

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cell projection, cilium Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
manganese ion binding	Binding to a manganese ion (Mn).
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.

7 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular response to DNA damage 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cellular senescence	Any process that modulates the frequency, rate or extent of cellular senescence.
regulation of response to DNA damage stimulus	Any process that modulates the frequency, rate or extent of response to DNA damage stimulus.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6P3R8	NEK5	Serine/threonine-protein kinase Nek5	Homo sapiens (Human)	PR
Q8NE28	STKLD1	Serine/threonine kinase-like domain-containing protein STKLD1	Homo sapiens (Human)	PR
Q9Y3S1	WNK2	Serine/threonine-protein kinase WNK2	Homo sapiens (Human)	SS
Q9UHY1	NRBP1	Nuclear receptor-binding protein	Homo sapiens (Human)	PR
Q9H4A3	WNK1	Serine/threonine-protein kinase WNK1	Homo sapiens (Human)	SS
Q9BYP7	WNK3	Serine/threonine-protein kinase WNK3	Homo sapiens (Human)	SS
Q9Y2U5	MAP3K2	Mitogen-activated protein kinase kinase kinase 2	Homo sapiens (Human)	PR
Q99759	MAP3K3	Mitogen-activated protein kinase kinase kinase 3	Homo sapiens (Human)	PR
Q8K1R7	Nek9	Serine/threonine-protein kinase Nek9	Mus musculus (Mouse)	SS
Q7TSC3	Nek5	Serine/threonine-protein kinase Nek5	Mus musculus (Mouse)	PR
Q10GB1	NEK1	Serine/threonine-protein kinase Nek1	Oryza sativa subsp japonica (Rice)	PR
Q6ZEZ5	NEK3	Serine/threonine-protein kinase Nek3	Oryza sativa subsp japonica (Rice)	PR
Q8RXT4	NEK4	Serine/threonine-protein kinase Nek4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LT35	NEK6	Serine/threonine-protein kinase Nek6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SLI2	NEK1	Serine/threonine-protein kinase Nek1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MPLAAYCYLR	VVGKGSYGEV	TLVKHRRDGK	QYVIKKLNLR	NASSRERRAA	EQEAQLLSQL
70	80	90	100	110	120
KHPNIVTYKE	SWEGGDGLLY	IVMGFCEGGD	LYRKLKEQKG	QLLPENQVVE	WFVQIAMALQ
130	140	150	160	170	180
YLHEKHILHR	DLKTQNVFLT	RTNIIKVGDL	GIARVLENHC	DMASTLIGTP	YYMSPELFSN
190	200	210	220	230	240
KPYNYKSDVW	ALGCCVYEMA	TLKHAFNAKD	MNSLVYRIIE	GKLPPMPRDY	SPELAELIRT
250	260	270	280	290	300
MLSKRPEERP	SVRSILRQPY	IKRQISFFLE	ATKIKTSKNN	IKNGDSQSKP	FATVVSGEAE
310	320	330	340	350	360
SNHEVIHPQP	LSSEGSQTYI	MGEGKCLSQE	KPRASGLLKS	PASLKAHTCK	QDLSNTTELA
370	380	390	400	410	420
TISSVNIDIL	PAKGRDSVSD	GFVQENQPRY	LDASNELGGI	CSISQVEEEM	LQDNTKSSAQ
430	440	450	460	470	480
PENLIPMWSS	DIVTGEKNEP	VKPLQPLIKE	QKPKDQSLAL	SPKLECSGTI	LAHSNLRLLG
490	500	510	520	530	540
SSDSPASASR	VAGITGVCHH	AQDQVAGECI	IEKQGRIHPD	LQPHNSGSEP	SLSRQRRQKR
550	560	570	580	590	600
REQTEHRGEK	RQVRRDLFAF	QESPPRFLPS	HPIVGKVDVT	STQKEAENQR	RVVTGSVSSS
610	620	630	640	650	660
RSSEMSSSKD	RPLSARERRR	LKQSQEEMSS	SGPSVRKASL	SVAGPGKPQE	EDQPLPARRL
670	680	690	700	710	720
SSDCSVTQER	KQIHCLSEDE	LSSSTSSTDK	SDGDYGEGKG	QTNEINALVQ	LMTQTLKLDS
730	740	750	760	770	780
KESCEDVPVA	NPVSEFKLHR	KYRDTLILHG	KVAEEAEEIH	FKELPSAIMP	GSEKIRRLVE
790	800	810	820	830	840
VLRTDVIRGL	GVQLLEQVYD	LLEEEDEFDR	EVRLREHMGE	KYTTYSVKAR	QLKFFEENMN

F