AiPD: Autoinhibited Protein Database

Q8IVH8

Gene name	MAP4K3 (RAB8IPL1)
Protein name	Mitogen-activated protein kinase kinase kinase kinase 3
Names	Germinal center kinase-related protein kinase, GLK, MAPK/ERK kinase kinase kinase 3, MEK kinase kinase 3, MEKKK 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8491
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

MAP4K3 may play a role in the response to environmental stress.?In human MAP4K2, its autoinhibitory domain is within 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)

540-744 (Autoinhibitory region) SS

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

AID

540-744 (Autoinhibitory region)

Target domain

16-273 (Protein kinase domain)

Relief mechanism

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

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

2 structures for Q8IVH8

Entry ID	Method	Resolution	Chain	Position	Source
5J5T	X-ray	285 A	A	13-380	PDB
AF-Q8IVH8-F1	Predicted				AlphaFoldDB

607 variants for Q8IVH8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA346771853 rs1268580645 RCV000577828	300	F>S	Ependymoma [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA346776049 rs1233437819	2	N>D		No	ClinGen TOPMed gnomAD
rs953080817 CA46046302	3	P>S		No	ClinGen TOPMed gnomAD
CA346776037 rs1320374525	4	G>S		No	ClinGen TOPMed
CA1626401 rs768931983	9	R>C		No	ClinGen ExAC TOPMed gnomAD
CA346776000 rs1310982026	9	R>H		No	ClinGen gnomAD
rs1310982026 CA346775998	9	R>L		No	ClinGen gnomAD
rs1211679120 CA346775983	12	P>A		No	ClinGen TOPMed
CA46046300 rs866976572	12	P>L		No	ClinGen gnomAD
CA346775981 rs866976572	12	P>Q		No	ClinGen gnomAD
rs746281264 CA1626397	13	Q>*		No	ClinGen ExAC gnomAD
rs1485358660 CA346775976	13	Q>L		No	ClinGen TOPMed
CA346775959 rs1426730384	15	D>V		No	ClinGen gnomAD
rs1265079535 CA346775949	16	F>L		No	ClinGen TOPMed
rs1477988784 CA346775947	17	E>*		No	ClinGen TOPMed
rs754578287 CA1626392	19	I>F		No	ClinGen ExAC gnomAD
rs751170049 CA1626391	20	Q>H		No	ClinGen ExAC gnomAD
CA46046299 rs866018265	21	R>C		No	ClinGen Ensembl
rs1490730605 CA346775890	26	T>S		No	ClinGen gnomAD
CA1626387 rs765225291	27	Y>S		No	ClinGen ExAC gnomAD
CA346775852 rs1309608200	31	Y>C		No	ClinGen gnomAD
rs1208935569 CA346775847 COSM117592	32	K>E	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1626354 rs779620372	33	A>T		No	ClinGen ExAC gnomAD
rs201570057 CA1626353	34	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1403052916 CA346778221	34	R>W		No	ClinGen TOPMed
rs745500900 CA1626352	35	N>S		No	ClinGen ExAC gnomAD
rs1276353988 CA346778211	36	V>I		No	ClinGen TOPMed
CA346778196 rs1397659681	38	T>A		No	ClinGen gnomAD
rs1400017645 CA346778194	38	T>I		No	ClinGen TOPMed gnomAD
rs1400017645 CA346778192	38	T>S		No	ClinGen TOPMed gnomAD
CA1626351 rs757084005	40	E>K		No	ClinGen ExAC gnomAD
CA1626350 rs757084005	40	E>Q		No	ClinGen ExAC gnomAD
CA1626348 rs575736719	42	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1626347 rs756105555	42	A>V		No	ClinGen ExAC gnomAD
rs1244077853 CA346778147	46	V>I		No	ClinGen gnomAD
CA46038576 rs149583357	47	I>V		No	ClinGen ESP TOPMed gnomAD
CA46035564 rs781264952	54	D>N		No	ClinGen TOPMed gnomAD
CA346777774 rs1211397962	57	V>F		No	ClinGen TOPMed gnomAD
CA346777776 rs1211397962	57	V>I		No	ClinGen TOPMed gnomAD
rs8545 CA346777728	63	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA46035563 rs571386484	63	I>T		No	ClinGen gnomAD
CA346777732 rs1269561649	63	I>V		No	ClinGen TOPMed
CA46035562 rs868714315	64	M>V		No	ClinGen Ensembl
CA346777712 rs1285876041	65	M>I		No	ClinGen gnomAD
rs1212515116 CA346777691	68	C>Y		No	ClinGen TOPMed
CA346777670 rs1365800647	71	P>T		No	ClinGen gnomAD
rs1325198340 CA346777649	74	V>I		No	ClinGen gnomAD
CA1626321 rs755031659	78	G>V		No	ClinGen ExAC gnomAD
rs1159528746 CA346777604	80	Y>C		No	ClinGen gnomAD
rs751662211 CA1626320	82	R>T		No	ClinGen ExAC gnomAD
rs750653813 CA1626297	83	R>L		No	ClinGen ExAC gnomAD
rs1043942373 CA46033865	84	D>G		No	ClinGen Ensembl
CA1626295 rs757618348	85	K>E		No	ClinGen ExAC gnomAD
rs1477310035 CA346776171	89	C>Y		No	ClinGen gnomAD
CA346776155 rs1166953552	91	E>Q		No	ClinGen TOPMed
CA46033864 rs913800249	92	F>L		No	ClinGen TOPMed
rs1174014269 CA346776141	93	C>S		No	ClinGen gnomAD
rs754172900 CA1626294	93	C>Y		No	ClinGen ExAC gnomAD
rs1420483608 CA346776131	94	G>E		No	ClinGen gnomAD
CA346776120 rs1461278999	96	G>C		No	ClinGen TOPMed
CA1626293 rs764654616	99	Q>H		No	ClinGen ExAC gnomAD
CA1626292 rs761264445	100	D>V		No	ClinGen ExAC gnomAD
CA1626290 rs370830441	104	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA346775823 rs1382917017	105	T>A		No	ClinGen gnomAD
rs1459645971 CA346775819	105	T>I		No	ClinGen gnomAD
rs372974663 CA346775787	111	L>M		No	ClinGen ESP ExAC gnomAD
rs1445124941 CA346775752	116	V>I		No	ClinGen TOPMed
rs772003145 CA46033023	124	L>*		No	ClinGen Ensembl
CA1626237 rs778096362	124	L>V		No	ClinGen ExAC gnomAD
rs1186781944 CA346775659	127	L>R		No	ClinGen TOPMed
rs1251808275 CA346775648	129	S>G		No	ClinGen TOPMed
rs755431533 CA1626233	129	S>T		No	ClinGen ExAC gnomAD
CA346775605 rs1300928570	134	H>Q		No	ClinGen gnomAD
CA346775607 rs1310651901	134	H>R		No	ClinGen gnomAD
rs756735881 CA1626230	136	D>E		No	ClinGen ExAC gnomAD
CA1626231 rs780650081	136	D>N		No	ClinGen ExAC gnomAD
CA46032564 rs762231524	140	A>G		No	ClinGen Ensembl
rs1429948730 CA346775543	141	N>S		No	ClinGen gnomAD
rs1176717891 CA346775538	142	I>V		No	ClinGen TOPMed
rs755676925 CA1626206	145	T>M		No	ClinGen ExAC gnomAD
rs192928168 CA46032562	149	H>Q		No	ClinGen 1000Genomes
rs767252209 CA1626204	149	H>R		No	ClinGen ExAC gnomAD
CA346775467 rs1256844586	152	L>F		No	ClinGen gnomAD
rs143515175 CA1626178	153	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200108763 CA1626177	157	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200108763 CA46032372	157	V>L		No	ClinGen ExAC TOPMed gnomAD
CA46032371 rs764324974	159	A>V		No	ClinGen TOPMed gnomAD
rs75909667 CA46032370	160	Q>K		No	ClinGen Ensembl
CA346775406 rs1573161692	160	Q>L		No	ClinGen Ensembl
rs764154972 CA1626175	161	I>L		No	ClinGen ExAC gnomAD
CA346775392 rs1158102916	162	T>I		No	ClinGen TOPMed gnomAD
rs775743312 CA1626173	164	T>S		No	ClinGen ExAC gnomAD
CA1626172 rs772419345	165	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346775358 rs1209225055	168	R>Q		No	ClinGen gnomAD
COSM1020901 CA346775359 rs1252160971	168	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1331179587 CA346775355	169	K>Q		No	ClinGen gnomAD
rs771461394 CA1626169	172	I>T		No	ClinGen ExAC gnomAD
CA346775313 rs1558650971	175	P>S		No	ClinGen Ensembl
rs773659964 CA1626150	185	V>I		No	ClinGen ExAC gnomAD
rs768182631 CA1626149	187	R>G		No	ClinGen ExAC gnomAD
rs1371450628 CA346773970	187	R>K		No	ClinGen TOPMed gnomAD
rs1371450628 CA346773965	187	R>T		No	ClinGen TOPMed gnomAD
rs1168972293 CA346773909	189	G>R		No	ClinGen gnomAD
rs1417129709 CA346773871	191	Y>C		No	ClinGen gnomAD
rs1217809146 CA346773839	192	N>S		No	ClinGen TOPMed
CA346773802 rs779806326	193	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA346773678 rs1198970703	198	W>*		No	ClinGen TOPMed
RCV000882989 CA1626146 rs35957290 VAR_040743	200	V>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA46031655 rs868221964	201	G>R		No	ClinGen Ensembl
CA346773560 rs1384309557	204	A>T		No	ClinGen TOPMed
CA1626145 rs139708839	205	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274981759 CA346773506	207	L>F		No	ClinGen TOPMed gnomAD
rs1019634525 CA46031653	208	A>G		No	ClinGen gnomAD
CA346773441 rs1306067334	211	Q>R		No	ClinGen gnomAD
CA1626144 rs778862893	214	M>I		No	ClinGen ExAC gnomAD
rs1365860722 CA346773363	215	F>C		No	ClinGen TOPMed gnomAD
CA1626143 rs757054730	218	H>N		No	ClinGen ExAC gnomAD
CA1626142 rs375531661	219	P>A		No	ClinGen ESP ExAC gnomAD
rs201809154 CA346773289	220	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346773284 rs1423435448	220	M>T		No	ClinGen gnomAD
rs201809154 CA1626141	220	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1626122 rs749083381	222	A>T		No	ClinGen ExAC gnomAD
rs1396593002 CA346773045	229	S>N		No	ClinGen gnomAD
rs1162623973 CA346773021	230	N>S		No	ClinGen TOPMed gnomAD
rs1460876098 CA346772959	233	P>S		No	ClinGen TOPMed gnomAD
rs868709273 CA346772948	234	P>A		No	ClinGen gnomAD
CA46031641 rs868709273	234	P>S		No	ClinGen gnomAD
rs56287463 CA46031640	238	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866952036 CA46031639	239	K>E		No	ClinGen Ensembl
rs748170593 CA1626118	242	W>S		No	ClinGen ExAC gnomAD
rs755029510 CA1626099	245	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1626098 rs747083337	252	M>V		No	ClinGen ExAC gnomAD
CA346772403 rs1256680448	253	A>S		No	ClinGen gnomAD
rs1256680448 CA346772409	253	A>T		No	ClinGen gnomAD
COSM3364741 rs182117796 CA1626096	255	T>I	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA346772358 rs182117796	255	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346772313 rs267599372	258	P>A		No	ClinGen gnomAD
CA1626095 rs750739897	258	P>L		No	ClinGen ExAC TOPMed gnomAD
CA46031634 rs267599372	258	P>S		No	ClinGen gnomAD
CA346772238 rs1297547709	261	R>K		No	ClinGen gnomAD
CA346772215 rs1387829544	263	T>I		No	ClinGen gnomAD
CA1626071 rs772251245	271	P>R		No	ClinGen ExAC gnomAD
rs1256910350 CA346772068	271	P>S		No	ClinGen TOPMed gnomAD
rs1256910350 CA346772067	271	P>T		No	ClinGen TOPMed gnomAD
CA46031626 rs542524229	273	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA346772039 rs542524229	273	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs139238128 CA1626070	274	T>I		No	ClinGen ESP ExAC gnomAD
CA46031624 rs139238128	274	T>R		No	ClinGen ESP ExAC gnomAD
CA346772018 rs1338657623	276	H>D		No	ClinGen gnomAD
CA346772012 rs1573153626	276	H>Q		No	ClinGen Ensembl
rs778382212 CA1626066	279	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754273500 CA1626067 COSM721005	279	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756704316 CA1626065	281	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1337210009 CA346771982	282	A>T		No	ClinGen gnomAD
CA1626064 rs143406660	283	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489547516 CA346771939	288	K>R		No	ClinGen TOPMed
CA46031621 rs1054798337	289	V>I		No	ClinGen Ensembl
rs762568806 CA1626062	290	N>D		No	ClinGen ExAC gnomAD
CA46031620 rs931087192	293	D>H		No	ClinGen TOPMed
rs1460355894 CA346771897	294	H>L		No	ClinGen gnomAD
rs1268580645 CA346771854	300	F>C		No	ClinGen TOPMed
rs1417200549 CA346771856	300	F>V		No	ClinGen gnomAD
CA1626058 rs768519707	301	D>E		No	ClinGen ExAC gnomAD
rs761559212 CA1626059	301	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1626056 rs760514071	302	D>H		No	ClinGen ExAC gnomAD
rs1023030027 CA46031619	302	D>V		No	ClinGen TOPMed
CA1626055 rs775561881	303	D>G		No	ClinGen ExAC
rs746008957 CA1626053	305	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1626024 rs753453789	307	P>L		No	ClinGen ExAC gnomAD
rs1343463562 CA346770001	308	L>V		No	ClinGen TOPMed gnomAD
rs763852993 CA1626023	309	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1175274776 CA346769989	310	A>S		No	ClinGen gnomAD
rs755816984 CA1626022	310	A>V		No	ClinGen ExAC TOPMed
CA1626019 rs767289671	313	H>R		No	ClinGen ExAC gnomAD
CA1626018 rs759558393	316	H>Q		No	ClinGen ExAC gnomAD
CA346769939 rs1239828591	318	T>A		No	ClinGen gnomAD
CA1626017 rs774499533	318	T>I		No	ClinGen ExAC gnomAD
rs1485787974 CA346769934	319	S>G		No	ClinGen gnomAD
rs373839840 CA1626016	321	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA46030275 rs79341391	321	N>T		No	ClinGen Ensembl
rs146697994 CA1626013	322	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1626014 rs146697994	322	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346769891 rs1167612727	325	E>G		No	ClinGen gnomAD
rs1347537725 CA346769878	327	T>A		No	ClinGen gnomAD
CA346769875 rs1462135341	327	T>R		No	ClinGen gnomAD
CA1626012 rs748398050	328	R>C		No	ClinGen ExAC TOPMed gnomAD
rs141061013 CA1626011	328	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141061013 COSM346670 CA346769870	328	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1626009 rs747508174	330	E>*		No	ClinGen ExAC gnomAD
CA1626008 rs780575269	332	T>I		No	ClinGen ExAC gnomAD
rs1573129188 CA346620931	334	G>C		No	ClinGen Ensembl
CA346620926 rs1232810573	334	G>D		No	ClinGen gnomAD
rs1558638102 CA346620862	338	F>L		No	ClinGen Ensembl
rs765357435 CA1625959	339	D>G		No	ClinGen ExAC TOPMed gnomAD
rs145604652 CA1625958	340	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1625957 rs754065917	340	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1625955 rs760984611	343	R>K		No	ClinGen ExAC gnomAD
CA346620737 rs1573129118	347	E>Q		No	ClinGen Ensembl
rs1454498453 CA346620716	348	P>S		No	ClinGen gnomAD
CA346620691 rs1409888520	349	H>Q		No	ClinGen TOPMed
CA1625952 rs370057656	351	E>D		No	ClinGen ESP ExAC gnomAD
rs1160775510 CA346620668 COSM84588	351	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346620651 rs1407674885	352	L>H		No	ClinGen gnomAD
rs776297594 CA1625930	353	P>L		No	ClinGen ExAC TOPMed gnomAD
CA45710685 rs1006920085	354	D>N		No	ClinGen gnomAD
CA346620192 rs1277959073	355	S>G		No	ClinGen gnomAD
CA1625927 rs775325887	359	L>F		No	ClinGen ExAC
CA1625926 rs771967694	360	D>E		No	ClinGen ExAC gnomAD
rs370883343 CA1625925	364	E>G		No	ClinGen ESP ExAC gnomAD
rs1339278574 CA346620053	365	I>M		No	ClinGen TOPMed gnomAD
CA346620048 rs1573127009	366	Y>C		No	ClinGen Ensembl
CA346620051 rs1431396143	366	Y>H		No	ClinGen Ensembl
CA45710664 rs904596743	368	T>I		No	ClinGen TOPMed gnomAD
CA346620032 rs904596743	368	T>S		No	ClinGen TOPMed gnomAD
rs757142272 CA1625923	369	A>E		No	ClinGen ExAC gnomAD
CA346620029 rs1373984683	369	A>T		No	ClinGen gnomAD
CA1625921 rs777817496	371	S>P		No	ClinGen ExAC gnomAD
rs139860595 CA1625920	372	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs539051541 CA45710652	372	N>S		No	ClinGen 1000Genomes
CA45710645 rs913698033	373	L>P		No	ClinGen Ensembl
rs765858421 CA1625892	376	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs750946862 CA1625893	376	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs372032525 CA1625891	377	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324784744 CA346619665	378	E>Q		No	ClinGen TOPMed
rs1438993818 CA346619608	386	G>S		No	ClinGen gnomAD
CA1625888 rs759097093	386	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1625887 rs201945763	389	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1625886 rs770599264	389	L>S		No	ClinGen ExAC gnomAD
CA45706163 rs1029900867	391	A>E		No	ClinGen gnomAD
rs1029900867 CA346619574	391	A>G		No	ClinGen gnomAD
CA1625885 rs762784907	391	A>T		No	ClinGen ExAC gnomAD
CA1625884 rs143085584	392	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259315528 CA346619564	393	K>E		No	ClinGen gnomAD
rs1344604851 CA346619519	397	K>R		No	ClinGen TOPMed gnomAD
rs1156652182 CA346619473	403	L>F		No	ClinGen TOPMed gnomAD
rs1459938914 CA346619470	404	H>Y		No	ClinGen TOPMed
rs1034102368 CA45702824	406	R>*		No	ClinGen TOPMed gnomAD
CA346619455 rs1324770604	406	R>Q		No	ClinGen gnomAD
rs140954365 CA1625859	408	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1625857 rs772424827	409	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1625855 rs148167737	410	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377680263 CA1625852	414	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207202060 CA346619389	414	D>G		No	ClinGen TOPMed gnomAD
rs754395599 CA1625851	415	D>E		No	ClinGen ExAC gnomAD
CA346619382 rs1257486757	415	D>G		No	ClinGen gnomAD
rs1337042984 CA346619365	418	D>N		No	ClinGen gnomAD
CA45702522 rs913127874	423	K>E		No	ClinGen gnomAD
CA1625826 VAR_040744 rs56317466	424	H>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346619279 rs1416781387	428	K>R		No	ClinGen TOPMed gnomAD
CA1625825 rs544863797	429	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370704144 CA1625824	430	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188547570 CA346619264	430	K>N		No	ClinGen TOPMed
CA1625823 rs756966243	432	P>A		No	ClinGen ExAC gnomAD
CA45700711 rs865895437	432	P>L		No	ClinGen Ensembl
rs367725695 CA1625822	433	P>S		No	ClinGen ExAC gnomAD
rs763876387 CA1625821	434	P>T		No	ClinGen ExAC gnomAD
CA1625820 rs760645879	435	L>W		No	ClinGen ExAC gnomAD
rs759737355 CA1625817	437	P>Q		No	ClinGen ExAC gnomAD
rs774665530 CA1625816	438	K>E		No	ClinGen ExAC TOPMed gnomAD
CA346619225 rs774665530	438	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1453673932 CA346619202	439	P>R		No	ClinGen TOPMed
CA346619200 rs1573099846	440	K>*		No	ClinGen Ensembl
rs769159401 CA1625790	441	S>F		No	ClinGen ExAC gnomAD
CA1625789 rs144704381	442	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1625788 rs140890267	444	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1573099819 CA346619132	446	Q>*		No	ClinGen Ensembl
CA346619130 rs1196284240	446	Q>P		No	ClinGen gnomAD
CA346619091 rs1293467315	448	M>I		No	ClinGen gnomAD
CA1625787 rs770411489	448	M>V		No	ClinGen ExAC gnomAD
CA1625786 rs777338438	449	H>L		No	ClinGen ExAC TOPMed gnomAD
CA346619085 rs1246565574	449	H>N		No	ClinGen gnomAD
CA1625785 rs777338438	449	H>R		No	ClinGen ExAC TOPMed gnomAD
rs755887203 CA346619066	450	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755887203 CA1625784	450	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs201340154 CA1625781	453	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA1625782 rs201340154	453	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs899195152 CA45699006	454	E>G		No	ClinGen Ensembl
CA1625780 rs751614569	458	T>I		No	ClinGen ExAC gnomAD
CA1625779 rs368930003	459	I>T		No	ClinGen ESP ExAC gnomAD
rs1465112284 CA346618949	459	I>V		No	ClinGen gnomAD
CA346618913 rs1456617184	461	R>S		No	ClinGen gnomAD
rs758458419 CA1625778	461	R>T		No	ClinGen ExAC gnomAD
rs750613403 CA1625777	462	C>F		No	ClinGen ExAC gnomAD
rs1440231379 CA346618874	464	M>I		No	ClinGen gnomAD
CA346618881 rs1438521204	464	M>T		No	ClinGen gnomAD
CA346618839 rs1396433548	467	S>N		No	ClinGen gnomAD
rs1176716171 CA346618283	468	P>A		No	ClinGen gnomAD
CA1625776 rs765413011	468	P>R		No	ClinGen ExAC
CA346618281 rs1176716171	468	P>S		No	ClinGen gnomAD
CA1625775 rs762103165	470	K>M		No	ClinGen ExAC TOPMed gnomAD
rs776013253 CA45698963	471	P>A		No	ClinGen Ensembl
rs1211234483 CA346618181	473	Q>E		No	ClinGen gnomAD
CA1625772 COSM75360 rs769914055	473	Q>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346618175 rs764496742	473	Q>P		No	ClinGen ExAC gnomAD
CA1625773 COSM1408056 rs764496742	473	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776013468 CA1625771	474	V>I		No	ClinGen ExAC gnomAD
rs748768051 CA346618132	476	P>A		No	ClinGen ExAC gnomAD
rs748768051 CA1625769	476	P>S		No	ClinGen ExAC gnomAD
CA346618126 rs1465876946	477	R>G		No	ClinGen TOPMed
CA346618122 rs1193245962	477	R>K		No	ClinGen TOPMed
CA1625766 rs781131258	481	P>A		No	ClinGen ExAC gnomAD
rs1377039496 CA346618069	481	P>H		No	ClinGen TOPMed
CA1625765 rs781131258	481	P>S		No	ClinGen ExAC gnomAD
CA45698920 rs1061687	482	R>G		No	ClinGen Ensembl
CA1625764 rs754862131	482	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1625763 rs746922571	483	L>I		No	ClinGen ExAC gnomAD
rs779881153 CA1625762	484	P>L		No	ClinGen ExAC TOPMed gnomAD
rs886533908 CA45698908	485	P>R		No	ClinGen gnomAD
CA1625761 rs758467087	485	P>S		No	ClinGen ExAC gnomAD
CA346618018 rs1386701166	486	H>Q		No	ClinGen TOPMed
rs1156724749 CA346618021	486	H>R		No	ClinGen TOPMed gnomAD
CA45698891 rs150356394	487	K>R		No	ClinGen ESP TOPMed gnomAD
CA45698884 rs1046856285	488	P>L		No	ClinGen TOPMed gnomAD
CA346618008 rs1246762835	488	P>T		No	ClinGen gnomAD
rs1200447390 CA346618005	489	V>I		No	ClinGen TOPMed gnomAD
rs750477737 CA1625760	490	A>G		No	ClinGen ExAC gnomAD
CA1625759 rs748334197	491	L>V		No	ClinGen ExAC TOPMed gnomAD
rs768431438 CA1625730	494	G>R		No	ClinGen ExAC gnomAD
rs1170706808 CA346617916	495	M>I		No	ClinGen gnomAD
CA45697870 rs946744473	495	M>L		No	ClinGen TOPMed
rs1478601904 CA346617908	496	S>N		No	ClinGen gnomAD
rs1421110475 CA346617902	496	S>R		No	ClinGen gnomAD
CA346617906 rs1478601904	496	S>T		No	ClinGen gnomAD
rs760464241 CA1625729	497	S>F		No	ClinGen ExAC gnomAD
rs1192464416 CA346617897	497	S>P		No	ClinGen gnomAD
rs760464241 CA346617893	497	S>Y		No	ClinGen ExAC gnomAD
CA1625727 rs771965123	499	Q>P		No	ClinGen ExAC gnomAD
CA346617822 rs1442297889	501	N>S		No	ClinGen gnomAD
CA346617793 rs1222318485	502	G>D		No	ClinGen TOPMed
rs142217528 CA1625725	502	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA346617765 rs770946346	503	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1316136849 CA346617780	503	E>Q		No	ClinGen gnomAD
rs1229077607 CA346617757	504	R>*		No	ClinGen TOPMed gnomAD
CA1625723 rs147872027	504	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1625722 rs777903856	506	G>S		No	ClinGen ExAC TOPMed gnomAD
CA45697852 rs1013802043	507	S>L		No	ClinGen TOPMed
rs1437146296 CA346617725	507	S>P		No	ClinGen gnomAD
rs756341755 CA1625721	509	C>R		No	ClinGen ExAC gnomAD
rs1339736770 CA346617677	511	Q>K		No	ClinGen gnomAD
CA346617660 rs1331951787	512	Q>K		No	ClinGen gnomAD
CA1625720 rs753021330	514	E>D		No	ClinGen ExAC TOPMed gnomAD
CA346617589 rs1397472066	515	H>L		No	ClinGen TOPMed gnomAD
CA346617592 rs1397472066	515	H>R		No	ClinGen TOPMed gnomAD
CA1625719 rs781380385	516	R>G		No	ClinGen ExAC gnomAD
CA1625718 rs755421340	516	R>S		No	ClinGen ExAC gnomAD
rs1180421049 CA346617543	517	G>D		No	ClinGen gnomAD
rs1416438439 CA346617553	517	G>R		No	ClinGen TOPMed gnomAD
CA346617555 rs1416438439	517	G>S		No	ClinGen TOPMed gnomAD
CA45697784 rs765800244	518	T>A		No	ClinGen gnomAD
rs1036388821 CA45697782	518	T>R		No	ClinGen TOPMed gnomAD
rs1181033788 CA346617513	519	N>D		No	ClinGen gnomAD
CA346617496 rs1456537594	519	N>K		No	ClinGen gnomAD
CA1625717 rs751963891	520	L>P		No	ClinGen ExAC TOPMed gnomAD
CA346617403 rs1573097758	523	K>I		No	ClinGen Ensembl
CA1625715 rs761342207	524	E>K		No	ClinGen ExAC gnomAD
rs753414559 CA1625714	525	K>E		No	ClinGen ExAC gnomAD
rs760236190 CA1625711	527	D>E		No	ClinGen ExAC TOPMed gnomAD
CA346617304 rs764202346	527	D>N		No	ClinGen Ensembl
rs764202346 CA45697757	527	D>Y		No	ClinGen Ensembl
rs200362958 CA1625710	528	V>I		No	ClinGen ExAC TOPMed gnomAD
CA346617256 rs1448863902	529	P>A		No	ClinGen gnomAD
rs748292580 CA1625681	530	K>E		No	ClinGen ExAC gnomAD
CA1625680 rs78142399	532	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295915160 CA346616226	533	S>R		No	ClinGen TOPMed
rs1365922163 CA346616175	536	L>F		No	ClinGen TOPMed gnomAD
CA346616166 rs1573092365	536	L>P		No	ClinGen Ensembl
CA346616158 rs747296551	537	P>H		No	ClinGen ExAC gnomAD
CA1625678 rs747296551 COSM3407859	537	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1625676 rs758878112	540	P>R		No	ClinGen ExAC gnomAD
COSM721008 rs1398604006 CA346616101	541	K>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346616073 rs746352110	543	H>P		No	ClinGen ExAC gnomAD
CA1625675 rs746352110	543	H>R		No	ClinGen ExAC gnomAD
rs754523576 CA346615606	550	K>E		No	ClinGen ExAC TOPMed gnomAD
rs754523576 CA1625653	550	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1625652 rs751163088	551	V>L		No	ClinGen ExAC gnomAD
CA346615575 rs1361345959	554	G>E		No	ClinGen TOPMed
rs758121581 CA1625650	555	C>S		No	ClinGen ExAC TOPMed gnomAD
CA45688796 rs1018754530	556	P>A		No	ClinGen TOPMed gnomAD
CA1625646 rs764997133	560	H>Q		No	ClinGen ExAC gnomAD
rs1329338564 CA346615529	561	C>G		No	ClinGen TOPMed gnomAD
rs1329338564 CA346615530	561	C>R		No	ClinGen TOPMed gnomAD
CA346615528 rs1391047622	561	C>Y		No	ClinGen gnomAD
CA45688755 rs202035278	563	S>A		No	ClinGen 1000Genomes
rs761802816 CA1625645	564	S>A		No	ClinGen ExAC gnomAD
rs1165210996 CA346615505	565	W>R		No	ClinGen gnomAD
rs1437775754 CA346615485	567	N>K		No	ClinGen TOPMed
rs868663842 CA45688748	568	P>S		No	ClinGen gnomAD
rs1162891408 CA346615474	569	D>A		No	ClinGen gnomAD
rs753756016 CA1625644	569	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760863387 CA1625642	571	R>I		No	ClinGen ExAC gnomAD
rs1225767724 CA346615459	572	D>N		No	ClinGen TOPMed
CA45687492 rs774273601	572	D>V		No	ClinGen Ensembl
rs760773260 CA1625624	573	Q>R		No	ClinGen ExAC gnomAD
CA1625622 rs767764950	576	I>M		No	ClinGen ExAC gnomAD
CA346615201 rs1346264277	580	E>A		No	ClinGen TOPMed
CA346615202 rs1300605346	580	E>K		No	ClinGen TOPMed
CA1625620 rs145945071	585	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766743405 CA1625619	586	L>V		No	ClinGen ExAC gnomAD
CA346615133 rs1369350696	590	E>K		No	ClinGen TOPMed
CA346615120 rs1416027881	592	H>D		No	ClinGen gnomAD
CA1625616 rs555556350	596	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1625615 rs555556350	596	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1625613 rs771606692	598	Q>*		No	ClinGen ExAC gnomAD
CA1625588 rs200427628	600	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1625589 rs200427628	600	F>L		No	ClinGen ExAC TOPMed gnomAD
rs756014502 CA1625586	601	P>L		No	ClinGen ExAC gnomAD
rs777708749 CA1625587	601	P>S		No	ClinGen ExAC gnomAD
CA346614579 rs1356765197	602	R>G		No	ClinGen gnomAD
rs781301191 COSM575076 CA1625585	602	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781301191 CA1625584	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147633728 CA1625581	605	T>A		No	ClinGen ESP ExAC gnomAD
CA1625582 rs147633728	605	T>S		No	ClinGen ESP ExAC gnomAD
CA1625580 rs568113123	606	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA346614519 rs1448540220	607	L>S		No	ClinGen gnomAD
CA346614477 rs1420756519	609	V>I		No	ClinGen TOPMed
CA1625577 rs762184952	610	M>R		No	ClinGen ExAC TOPMed gnomAD
CA346614411 rs1388542467	613	C>G		No	ClinGen TOPMed
rs764517111 CA1625575	613	C>S		No	ClinGen ExAC gnomAD
CA346614361 rs1238240185	617	I>M		No	ClinGen TOPMed
rs1180510258 CA346614371	617	I>V		No	ClinGen gnomAD
rs754218596 CA1625559	619	G>D		No	ClinGen ExAC gnomAD
rs761084162 CA1625557	622	S>C		No	ClinGen ExAC gnomAD
rs1444713242 CA346614274	625	Y>F		No	ClinGen TOPMed
rs1022035601 CA45682879	626	S>F		No	ClinGen Ensembl
CA346614262 rs1311694454	627	H>R		No	ClinGen TOPMed
CA346614257 rs1220066728	628	N>D		No	ClinGen gnomAD
CA346614258 rs1220066728	628	N>H		No	ClinGen gnomAD
CA346614245 rs1490121712	629	L>F		No	ClinGen gnomAD
CA346614241 rs1395834822	630	P>S		No	ClinGen gnomAD
rs140914094 CA1625552	637	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346614187 rs1314647994	638	Q>E		No	ClinGen gnomAD
rs1282881037 CA346614174	639	M>I		No	ClinGen TOPMed gnomAD
rs891803178 CA45682870	640	Q>E		No	ClinGen Ensembl
CA346614150 rs1219458709	642	L>F		No	ClinGen gnomAD
CA346614148 rs1474383979	643	P>A		No	ClinGen gnomAD
rs1057203277 CA45682859	644	V>L		No	ClinGen Ensembl
CA346614137 rs1346925335	645	A>P		No	ClinGen gnomAD
CA346614135 rs1280966964	645	A>V		No	ClinGen gnomAD
rs1341491093 CA346614122	647	P>Q		No	ClinGen gnomAD
rs1452206118 CA346614113	649	H>Y		No	ClinGen gnomAD
CA1625550 rs200566214	650	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201514430 CA45679214	660	F>C		No	ClinGen TOPMed
CA45679208 rs947803646	664	A>V		No	ClinGen Ensembl
rs1447801310 CA346613094	665	K>N		No	ClinGen gnomAD
rs774412847 CA1625527	667	P>T		No	ClinGen ExAC gnomAD
rs771042334 CA1625526	671	W>*		No	ClinGen ExAC gnomAD
CA1625525 rs527631250	672	C>F		No	ClinGen ExAC gnomAD
CA346612988 rs1573072282	673	Q>R		No	ClinGen Ensembl
rs778081138 CA346612982	674	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1625524 rs778081138	674	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA346612952 rs1424114323	676	C>R		No	ClinGen TOPMed
rs1573072237 CA346612947	676	C>S		No	ClinGen Ensembl
CA1625495 rs370471834	680	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346612458 rs1398095188	681	P>A		No	ClinGen TOPMed
CA1625494 rs202078322	682	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346612434 rs1302508382	683	T>A		No	ClinGen gnomAD
rs745338606 CA1625493	683	T>K		No	ClinGen ExAC gnomAD
rs745338606 CA1625492	683	T>M		No	ClinGen ExAC gnomAD
CA346612419 rs1156233443	684	G>V		No	ClinGen gnomAD
rs751461090 CA1625490	685	H>R		No	ClinGen ExAC gnomAD
CA346612344 rs1194538214	689	C>R		No	ClinGen gnomAD
CA45677780 rs1024485150	689	C>S		No	ClinGen Ensembl
rs769099426 CA1625483	695	S>N		No	ClinGen ExAC TOPMed gnomAD
rs769099426 CA1625482	695	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1625480 rs780645266	696	I>L		No	ClinGen ExAC gnomAD
CA1625479 rs184877258	697	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1282332106 CA346612202	698	L>V		No	ClinGen TOPMed gnomAD
rs1316112430 COSM325760 CA346612138	701	W>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs199576821 CA1625476	705	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1216228024 CA346611618	713	H>L		No	ClinGen TOPMed
rs765087064 CA1625451	713	H>Q		No	ClinGen ExAC gnomAD
rs1216228024 CA346611619	713	H>R		No	ClinGen TOPMed
rs767943285 CA1625449	714	I>M		No	ClinGen ExAC TOPMed gnomAD
rs368002292 CA1625450	714	I>V		No	ClinGen ESP ExAC gnomAD
CA346611598 rs1243205526	716	F>C		No	ClinGen gnomAD
rs764333697 CA1625448	717	P>L		No	ClinGen ExAC gnomAD
CA1625447 rs760951171	718	I>V		No	ClinGen ExAC gnomAD
rs775906424 CA45674673	719	P>A		No	ClinGen ExAC gnomAD
CA1625446 rs775906424	719	P>T		No	ClinGen ExAC gnomAD
CA1625444 rs759853771	720	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1425679890 CA346611564	722	L>P		No	ClinGen gnomAD
CA1625443 rs774856183	724	M>I		No	ClinGen ExAC gnomAD
rs1461516688 CA346611551	724	M>R		No	ClinGen TOPMed
CA346611514 rs1162194451	729	V>L		No	ClinGen gnomAD
rs771355575 CA1625442	732	E>Q		No	ClinGen ExAC gnomAD
CA45674625 rs755308146	734	E>K		No	ClinGen Ensembl
rs1468742894 CA346611444	739	C>F		No	ClinGen gnomAD
CA1625438 rs746615160	741	G>A		No	ClinGen ExAC gnomAD
rs564131982 CA1625437	743	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1625436 rs545435479	743	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1573064068 CA346611417	744	R>G		No	ClinGen Ensembl
rs142364483 CA1625435	744	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346611411 rs1284282439	745	G>R		No	ClinGen TOPMed gnomAD
rs778823426 CA1625434	747	D>N		No	ClinGen ExAC gnomAD
CA346611395 rs1470437653	747	D>V		No	ClinGen TOPMed
rs1158705173 CA346611379	749	N>I		No	ClinGen TOPMed
CA346611376 rs1343212373	750	Q>E		No	ClinGen TOPMed
CA45674542 rs763570074	750	Q>H		No	ClinGen gnomAD
CA1625432 rs753869764	752	V>F		No	ClinGen ExAC gnomAD
CA346611357 rs1432706724 COSM1020891	753	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM1020890 rs764250055 CA1625431	753	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346611350 rs1344812854	754	F>S		No	ClinGen TOPMed
rs756289226 CA1625430	755	E>Q		No	ClinGen ExAC gnomAD
rs571819408 CA1625429	756	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774568651 CA1625426	758	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1625425 rs766835284	759	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1625424 rs150751996	760	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA45674512 rs1050421105	760	N>S		No	ClinGen gnomAD
rs773728631 CA1625423	762	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1625422 rs768114291	762	T>N		No	ClinGen ExAC gnomAD
rs773728631 CA45674503	762	T>P		No	ClinGen ExAC TOPMed gnomAD
rs775146730 CA1625420	765	W>C		No	ClinGen ExAC gnomAD
rs1242630364 CA346611272	767	T>A		No	ClinGen gnomAD
CA1625419 rs771606824	768	E>Q		No	ClinGen ExAC gnomAD
rs745598534 CA1625418	769	S>T		No	ClinGen ExAC gnomAD
CA1625399 rs759091203	770	D>A		No	ClinGen ExAC gnomAD
rs759091203 CA45673029	770	D>V		No	ClinGen ExAC gnomAD
CA346611231 rs1573061513	771	T>A		No	ClinGen Ensembl
rs539102086 CA346611228	771	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1625398 rs539102086	771	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs370055571 CA1625395	772	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370055571 CA1625396	772	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399480625 CA346611212	774	T>I		No	ClinGen TOPMed
CA346611208 rs1276491877	775	N>D		No	ClinGen TOPMed
CA1625394 rs769841070	777	T>A		No	ClinGen ExAC TOPMed gnomAD
CA346611192 rs1473396175	777	T>S		No	ClinGen gnomAD
rs148210729 CA346611184	778	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs148210729 CA1625393	778	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346611186 rs1183738655	778	H>R		No	ClinGen gnomAD
rs1274001750 CA346611188	778	H>Y		No	ClinGen TOPMed
CA346611172 rs1240935228	780	T>I		No	ClinGen gnomAD
CA346611165 rs1199487668	781	Q>H		No	ClinGen TOPMed gnomAD
CA45672988 rs978621400	783	E>K		No	ClinGen Ensembl
CA1625392 rs781103218	785	D>E		No	ClinGen ExAC gnomAD
CA346611130 rs1253390957	787	I>V		No	ClinGen gnomAD
CA346611122 rs1487638636	788	L>F		No	ClinGen TOPMed
rs1484969397 CA346611103	791	L>V		No	ClinGen TOPMed gnomAD
rs570592038 CA1625390	792	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1357447995 CA346611040	793	C>F		No	ClinGen TOPMed gnomAD
rs1357447995 COSM1408053 CA346611038	793	C>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346611020 rs1014336903	794	C>F		No	ClinGen TOPMed gnomAD
CA45672826 rs1014336903	794	C>S		No	ClinGen TOPMed gnomAD
CA346611025 rs1329080789	794	C>S		No	ClinGen TOPMed
CA346611013 rs1482922818	795	I>V		No	ClinGen gnomAD
CA346610989 rs1293188571	797	I>V		No	ClinGen gnomAD
CA1625373 rs201428002	803	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1573061180 CA346610913	803	R>K		No	ClinGen Ensembl
CA1625372 rs747124130	803	R>S		No	ClinGen ExAC gnomAD
rs371300974 CA45672818	804	L>V		No	ClinGen ESP TOPMed
rs1240033163 CA346610877	806	S>Y		No	ClinGen TOPMed gnomAD
rs1237919995 CA346610860	807	S>R		No	ClinGen TOPMed
rs780161356 CA1625371	809	K>E		No	ClinGen ExAC gnomAD
CA346610822 rs1573061114	811	S>A		No	ClinGen Ensembl
rs1407811010 CA346610817	811	S>L		No	ClinGen gnomAD
rs201194546 CA1625370	815	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1625368 rs143580691	816	F>C		No	ClinGen ESP ExAC gnomAD
CA346610761 rs1448694065	816	F>L		No	ClinGen gnomAD
CA1625369 rs143580691	816	F>Y		No	ClinGen ESP ExAC gnomAD
CA346610744 rs1558603430	817	D>E		No	ClinGen Ensembl
rs757665456 CA1625367	819	Q>P		No	ClinGen ExAC gnomAD
CA45672784 rs899309904	820	I>L		No	ClinGen TOPMed gnomAD
CA45672779 rs899309904	820	I>V		No	ClinGen TOPMed gnomAD
rs1365235958 CA346610675	823	I>T		No	ClinGen gnomAD
rs147007578 CA1625366	823	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346610666 rs764671046	824	V>L		No	ClinGen ExAC gnomAD
rs764671046 CA1625365	824	V>M		No	ClinGen ExAC gnomAD
CA346609829 rs1227998939	827	Q>L		No	ClinGen gnomAD
rs1294678046 CA346609784	830	V>M		No	ClinGen gnomAD
rs756639419 CA1625346	832	A>G		No	ClinGen ExAC gnomAD
CA1625345 rs553914401	833	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA346609676 rs1413159776	837	G>A		No	ClinGen gnomAD
rs1573056395 CA346609625	840	G>A		No	ClinGen Ensembl
CA1625344 rs765966159	840	G>R		No	ClinGen ExAC gnomAD
rs1573056385 CA346609595	842	S>N		No	ClinGen Ensembl
rs1472160943 CA346609563	844	R>G		No	ClinGen TOPMed
CA346609560 rs1476637768	844	R>K		No	ClinGen gnomAD
rs1388854176 CA346609551	844	R>S		No	ClinGen gnomAD
CA1625329 rs749539679	848	V>I		No	ClinGen ExAC gnomAD
CA1625328 rs778169346	849	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1359551654 CA346609242	851	E>Q		No	ClinGen gnomAD
rs748619159 CA1625326	852	I>V		No	ClinGen ExAC gnomAD
CA346609229 rs1415371988	853	S>T		No	ClinGen TOPMed gnomAD
rs1355280219 CA346609217	854	D>E		No	ClinGen gnomAD
rs1226113726 CA346609223	854	D>H		No	ClinGen gnomAD
CA346609206 rs1229299679	856	T>A		No	ClinGen TOPMed
rs1278110792 CA346609197	857	R>I		No	ClinGen TOPMed
CA346609177 rs1316667860	860	R>K		No	ClinGen TOPMed
rs1412113249 CA346609150	864	S>F		No	ClinGen TOPMed gnomAD
rs368756273 CA45668422	866	R>G		No	ClinGen ESP TOPMed
CA346609056 rs1427236738	868	V>M		No	ClinGen gnomAD
CA346609041 rs1189360608	870	L>S		No	ClinGen gnomAD
CA1625298 rs756737289	875	T>A		No	ClinGen ExAC gnomAD
rs1349345172 CA346608959	876	D>V		No	ClinGen TOPMed
rs753487366 CA1625297	878	P>L		No	ClinGen ExAC TOPMed gnomAD
rs932853814 CA346608936	878	P>S		No	ClinGen TOPMed
rs932853814 CA45667336	878	P>T		No	ClinGen TOPMed
CA1625296 rs777297625	881	N>H		No	ClinGen ExAC gnomAD
rs1314275572 CA346608901	881	N>K		No	ClinGen gnomAD
rs755849059 CA1625295	882	S>C		No	ClinGen ExAC gnomAD
CA346608867 rs1239077761	884	L>S		No	ClinGen TOPMed
CA45667323 rs989666593	885	Y>N		No	ClinGen Ensembl
CA346608841 rs1362755640	888	A>S		No	ClinGen gnomAD
rs1388245945 CA346608801	893	S>T		No	ClinGen gnomAD
CA45667315 rs1031260369	894	Y>*		No	ClinGen Ensembl
rs1337603908 CA346608792	894	Y>F		No	ClinGen gnomAD
CA346608786 rs1466390510	895	Y>L		No	ClinGen gnomAD
rs1352695738 CA346608784	895	Y>W		No	ClinGen TOPMed

No associated diseases with Q8IVH8

4 regional properties for Q8IVH8

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	9 - 265	IPR000719
active_site	Serine/threonine-protein kinase, active site	126 - 138	IPR008271
binding_site	Protein kinase, ATP binding site	15 - 38	IPR017441
domain	Checkpoint kinase 1, catalytic domain	7 - 265	IPR034670

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

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.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein 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.

5 GO annotations of biological process

Name	Definition
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.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
response to tumor necrosis factor	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
response to UV	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.

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
Q12851	MAP4K2	Mitogen-activated protein kinase kinase kinase kinase 2	Homo sapiens (Human)	EV
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
P70218	Map4k1	Mitogen-activated protein kinase kinase kinase kinase 1	Mus musculus (Mouse)	PR
Q61161	Map4k2	Mitogen-activated protein kinase kinase kinase kinase 2	Mus musculus (Mouse)	SS
Q8BPM2	Map4k5	Mitogen-activated protein kinase kinase kinase kinase 5	Mus musculus (Mouse)	PR
Q99JP0	Map4k3	Mitogen-activated protein kinase kinase kinase kinase 3	Mus musculus (Mouse)	SS
Q924I2	Map4k3	Mitogen-activated protein kinase kinase kinase kinase 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MNPGFDLSRR	NPQEDFELIQ	RIGSGTYGDV	YKARNVNTGE	LAAIKVIKLE	PGEDFAVVQQ
70	80	90	100	110	120
EIIMMKDCKH	PNIVAYFGSY	LRRDKLWICM	EFCGGGSLQD	IYHVTGPLSE	LQIAYVSRET
130	140	150	160	170	180
LQGLYYLHSK	GKMHRDIKGA	NILLTDNGHV	KLADFGVSAQ	ITATIAKRKS	FIGTPYWMAP
190	200	210	220	230	240
EVAAVERKGG	YNQLCDLWAV	GITAIELAEL	QPPMFDLHPM	RALFLMTKSN	FQPPKLKDKM
250	260	270	280	290	300
KWSNSFHHFV	KMALTKNPKK	RPTAEKLLQH	PFVTQHLTRS	LAIELLDKVN	NPDHSTYHDF
310	320	330	340	350	360
DDDDPEPLVA	VPHRIHSTSR	NVREEKTRSE	ITFGQVKFDP	PLRKETEPHH	ELPDSDGFLD
370	380	390	400	410	420
SSEEIYYTAR	SNLDLQLEYG	QGHQGGYFLG	ANKSLLKSVE	EELHQRGHVA	HLEDDEGDDD
430	440	450	460	470	480
ESKHSTLKAK	IPPPLPPKPK	SIFIPQEMHS	TEDENQGTIK	RCPMSGSPAK	PSQVPPRPPP
490	500	510	520	530	540
PRLPPHKPVA	LGNGMSSFQL	NGERDGSLCQ	QQNEHRGTNL	SRKEKKDVPK	PISNGLPPTP
550	560	570	580	590	600
KVHMGACFSK	VFNGCPLKIH	CASSWINPDT	RDQYLIFGAE	EGIYTLNLNE	LHETSMEQLF
610	620	630	640	650	660
PRRCTWLYVM	NNCLLSISGK	ASQLYSHNLP	GLFDYARQMQ	KLPVAIPAHK	LPDRILPRKF
670	680	690	700	710	720
SVSAKIPETK	WCQKCCVVRN	PYTGHKYLCG	ALQTSIVLLE	WVEPMQKFML	IKHIDFPIPC
730	740	750	760	770	780
PLRMFEMLVV	PEQEYPLVCV	GVSRGRDFNQ	VVRFETVNPN	STSSWFTESD	TPQTNVTHVT
790	800	810	820	830	840
QLERDTILVC	LDCCIKIVNL	QGRLKSSRKL	SSELTFDFQI	ESIVCLQDSV	LAFWKHGMQG
850	860	870	880	890
RSFRSNEVTQ	EISDSTRIFR	LLGSDRVVVL	ESRPTDNPTA	NSNLYILAGH	ENSY