AiPD: Autoinhibited Protein Database

Q8N431

Gene name	RASGEF1C
Protein name	Ras-GEF domain-containing family member 1C
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:255426
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-55 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-55 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

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 Q8N431

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N431-F1	Predicted				AlphaFoldDB

350 variants for Q8N431

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3603736 rs752915960	4	T>M		No	ClinGen ExAC TOPMed gnomAD
CA362485414 rs752915960	4	T>R		No	ClinGen ExAC TOPMed gnomAD
CA3603735 rs767824104	6	S>N		No	ClinGen ExAC TOPMed gnomAD
CA362485383 rs1388709024	9	D>E		No	ClinGen gnomAD
rs774289825 CA3603733	9	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	9	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215723005 CA362485362	12	T>I		No	ClinGen gnomAD
CA362485367 rs1582276337	12	T>P		No	ClinGen Ensembl
TCGA novel	13	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	13	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763312688 CA3603731	18	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763312688 CA362485323	18	P>R		No	ClinGen ExAC TOPMed gnomAD
rs894230863 CA133186887	19	P>S		No	ClinGen gnomAD
rs1335170043 CA362485317	20	P>A		No	ClinGen TOPMed
CA362485312 rs1482955128	20	P>L		No	ClinGen gnomAD
COSM449461 CA3603727 rs777033115 COSM1486675	22	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1246383776 CA362485293	23	P>L		No	ClinGen gnomAD
rs771684207 CA362485280	25	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3603724 rs778277079	27	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778277079 CA133186856	27	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs756791784 CA3603723	28	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA362485250 rs1412242015	30	G>E		No	ClinGen gnomAD
TCGA novel	30	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369197465 CA362485241	31	Q>H		No	ClinGen gnomAD
CA3603721 rs771330235	32	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1351886577 CA362485225	34	L>P		No	ClinGen gnomAD
CA3603719 rs752507573	35	D>H		No	ClinGen ExAC gnomAD
CA3603716 rs373863176	37	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3603718 rs767484817	37	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3603717 rs373863176	37	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403496334 CA362485183	42	S>T		No	ClinGen TOPMed
TCGA novel	44	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs932721512 CA133186784	44	E>D		No	ClinGen Ensembl
rs1220378481 CA362485168	44	E>G		No	ClinGen gnomAD
rs1263375601 CA362485171	44	E>Q		No	ClinGen gnomAD
rs370743590 CA3603712	45	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA362485149 rs1298594666	47	I>M		No	ClinGen TOPMed
CA3603710 rs776980032	49	H>Y		No	ClinGen ExAC gnomAD
CA3603708 rs376119349	50	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA362485124 rs1303364013	51	V>G		No	ClinGen TOPMed
rs774080726 CA3603707	52	P>S		No	ClinGen ExAC gnomAD
TCGA novel	54	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777463614 CA3603704	55	D>E		No	ClinGen ExAC gnomAD
CA3603705 rs748807530	55	D>N		No	ClinGen ExAC gnomAD
CA3603702 rs373209907	58	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA133186734 rs267600584	58	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs373209907 CA3603703	58	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781076272 CA3603701	59	E>D		No	ClinGen ExAC gnomAD
CA362485081 rs1455689684	59	E>K		No	ClinGen TOPMed gnomAD
rs1455689684 CA362485080	59	E>Q		No	ClinGen TOPMed gnomAD
CA3603678 rs369758349	62	Y>C		No	ClinGen ESP ExAC gnomAD
rs1023800520 CA133186512	62	Y>H		No	ClinGen TOPMed
rs1484548059 CA362485042	63	I>L		No	ClinGen TOPMed gnomAD
CA362485041 rs1484548059	63	I>V		No	ClinGen TOPMed gnomAD
rs1234092397 CA362485031	64	F>S		No	ClinGen gnomAD
CA362485021 rs746800235	66	F>I		No	ClinGen ExAC TOPMed gnomAD
CA3603676 rs746800235	66	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1582276032 CA362485018	66	F>S		No	ClinGen Ensembl
CA362485010 rs1334967893	67	L>P		No	ClinGen gnomAD
rs1400045863 CA362484990	71	R>S		No	ClinGen gnomAD
rs758645435 CA3603674	72	L>I		No	ClinGen ExAC gnomAD
CA362484967 rs1391789329	74	I>T		No	ClinGen gnomAD
rs376754942 CA3603671	75	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376754942 CA3603672	75	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3603669 rs767718466	76	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3603668 rs761124687	76	P>L		No	ClinGen ExAC gnomAD
rs140361935 CA3603665	77	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767828528 CA3603666	77	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3603664 rs769389621	78	E>K		No	ClinGen ExAC gnomAD
rs769389621 CA3603663	78	E>Q		No	ClinGen ExAC gnomAD
rs1228729976 CA362484929	81	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362484926 rs373050178	82	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1436615 CA3603661 rs373050178 COSM1436616	82	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA362484899 rs1158560338	86	L>P		No	ClinGen TOPMed
CA133186375 rs1048312296	88	I>L		No	ClinGen TOPMed
rs931191898 CA133186371	89	E>K		No	ClinGen TOPMed
rs746987675 CA3603659	91	Q>*		No	ClinGen ExAC gnomAD
rs746987675 CA362484868	91	Q>K		No	ClinGen ExAC gnomAD
rs1409130203 CA362484855	92	Q>H		No	ClinGen gnomAD
CA3603657 rs771780665	93	L>R		No	ClinGen ExAC
CA3603654 rs757516200	94	D>E		No	ClinGen ExAC gnomAD
rs533943411 CA3603656	94	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs533943411 CA3603655	94	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA362484844 rs1582275939	95	K>Q		No	ClinGen Ensembl
rs1182204209 CA362484840	95	K>R		No	ClinGen gnomAD
rs182311315 CA3603652	96	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3603651 rs756629087	97	V>A		No	ClinGen ExAC gnomAD
rs753156029 CA3603650	98	L>P		No	ClinGen ExAC
rs1437598840 CA362484820	99	D>Y		No	ClinGen gnomAD
CA362484790 rs1386427511	101	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1346878693 CA362484786	102	R>Q		No	ClinGen gnomAD
CA3603621 rs759533589	102	R>W		No	ClinGen ExAC gnomAD
CA362484778 rs1299584370	104	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1486673 rs774116646 CA3603620 COSM1486674	104	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770723711 CA3603619	105	K>N		No	ClinGen ExAC TOPMed gnomAD
CA362484747 rs1448088704	109	K>E		No	ClinGen gnomAD
CA3603617 rs773337130	112	Q>*		No	ClinGen ExAC gnomAD
rs1433328493 CA362484727	112	Q>R		No	ClinGen TOPMed gnomAD
CA3603615 rs748154774	113	L>P		No	ClinGen ExAC gnomAD
CA3603614 rs546781374	115	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866882820 CA133185130	115	A>V		No	ClinGen Ensembl
rs755538727 CA133185114	116	E>*		No	ClinGen ExAC gnomAD
rs755538727 CA3603613	116	E>Q		No	ClinGen ExAC gnomAD
rs1056142919 CA133185110	119	E>G		No	ClinGen Ensembl
CA362484687 rs1239208491	119	E>K		No	ClinGen gnomAD
rs1239208491 CA362484686	119	E>Q		No	ClinGen gnomAD
rs1488568728 CA362484676	120	T>N		No	ClinGen TOPMed
rs1275122237 CA362484635	126	Q>*		No	ClinGen gnomAD
CA362484637 rs1275122237	126	Q>K		No	ClinGen gnomAD
CA362484617 rs1264951737	128	E>A		No	ClinGen TOPMed
CA3603610 rs758841291	129	S>L		No	ClinGen ExAC gnomAD
CA362484613 rs1339687436	129	S>T		No	ClinGen gnomAD
rs1380711155 CA362484605	130	T>I		No	ClinGen gnomAD
CA3603608 rs777264739	131	I>M		No	ClinGen ExAC TOPMed gnomAD
CA362484601 rs1281859702	131	I>V		No	ClinGen gnomAD
TCGA novel	132	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201700080 CA3603606	133	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA133185106 rs540146677	133	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201700080 CA3603607	133	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353032941 CA362484582	134	L>P		No	ClinGen gnomAD
rs899409652 CA133185090	135	K>R		No	ClinGen TOPMed
CA362484569 rs1292047543	136	D>A		No	ClinGen TOPMed
rs1170004834 CA362484571	136	D>N		No	ClinGen gnomAD
rs759404646 CA3603604	137	V>I		No	ClinGen ExAC TOPMed gnomAD
rs372841441 CA3603603	138	V>L		No	ClinGen ExAC TOPMed gnomAD
rs372841441 CA362484559 COSM1223214 COSM1223215	138	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3603602 rs766115527	140	R>C		No	ClinGen ExAC gnomAD
rs923230484 COSM1161538 COSM1161537 CA133185066	140	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA362484535 rs762688045	142	A>D		No	ClinGen ExAC TOPMed gnomAD
CA133185042 rs577503426	142	A>T		No	ClinGen TOPMed
rs762688045 CA3603601	142	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773099936 CA362484512	145	D>E		No	ClinGen ExAC TOPMed gnomAD
CA133184998 rs1039232521	146	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1202813216 CA362484482	148	Y>H		No	ClinGen gnomAD
CA3603573 rs188445387	149	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3603572 rs771341866	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs188445387 CA3603575	149	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3603571 rs747751151	154	Q>R		No	ClinGen ExAC TOPMed
rs1350501630 CA362484432	155	L>F		No	ClinGen gnomAD
CA362484400 rs1301627598	160	H>P		No	ClinGen gnomAD
CA362484401 rs1301627598	160	H>R		No	ClinGen gnomAD
rs780855128 CA3603570	161	Q>E		No	ClinGen ExAC gnomAD
rs1366148105 CA362484374	164	A>S		No	ClinGen gnomAD
rs1366148105 CA362484376	164	A>T		No	ClinGen gnomAD
CA362484373 rs1299961942	164	A>V		No	ClinGen TOPMed gnomAD
CA362484368 rs1384236384	165	A>S		No	ClinGen TOPMed gnomAD
rs1384236384 CA362484370	165	A>T		No	ClinGen TOPMed gnomAD
CA362484361 rs1303352833	166	L>P		No	ClinGen TOPMed gnomAD
rs746500430 CA362484358	167	R>C		No	ClinGen ExAC TOPMed gnomAD
rs539767479 CA3603567	167	R>H		No	ClinGen 1000Genomes ExAC TOPMed
rs746500430 CA3603568	167	R>S		No	ClinGen ExAC TOPMed gnomAD
rs758263526 COSM246957 CA3603566	169	G>E	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA362484345 rs1269985848	169	G>W		No	ClinGen gnomAD
TCGA novel	170	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362484332 rs1582270721	171	E>G		No	ClinGen Ensembl
rs750377437 CA3603565	172	G>S		No	ClinGen ExAC gnomAD
rs764880344 CA3603564	175	G>D		No	ClinGen ExAC gnomAD
rs754069123 CA3603562	177	D>N		No	ClinGen ExAC TOPMed gnomAD
CA362484268 rs1201538081	181	S>F		No	ClinGen gnomAD
CA362484249 rs1561737060	184	T>N		No	ClinGen Ensembl
rs1278672998 CA362484251	184	T>P		No	ClinGen gnomAD
rs1278672998 CA362484252	184	T>S		No	ClinGen gnomAD
rs775710559 CA3603559	186	P>L		No	ClinGen ExAC gnomAD
CA362484230 rs1343196564	187	P>Q		No	ClinGen gnomAD
CA3603558 rs371799192	189	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3603557 rs759905180	190	I>T		No	ClinGen ExAC
CA362484215 rs1325933702	190	I>V		No	ClinGen gnomAD
rs1005687900 CA133178386	191	H>R		No	ClinGen TOPMed gnomAD
CA362484203 rs1416567731	192	R>G		No	ClinGen gnomAD
CA3603556 COSM357036 rs774946523	192	R>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1441532856 CA362484187	194	L>F		No	ClinGen TOPMed
CA3603554 rs749622267	197	V>I		No	ClinGen ExAC gnomAD
TCGA novel	199	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3603553 rs773616221	200	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	205	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279971580 CA362484104	207	Q>E		No	ClinGen TOPMed
rs768284049 CA3603552	208	L>R		No	ClinGen ExAC gnomAD
TCGA novel	209	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3603551 rs368535017	210	H>Q		No	ClinGen ESP ExAC gnomAD
rs1275946614 CA362484077	211	V>G		No	ClinGen TOPMed
rs553759260 CA3603550	211	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334246641 CA362484041	215	R>Q		No	ClinGen TOPMed
rs781446741 CA3603524	215	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1410762395 CA362484031	217	R>Q		No	ClinGen TOPMed gnomAD
CA3603521 rs766435737	219	I>S		No	ClinGen ExAC gnomAD
CA362484019 rs1317932262	219	I>V		No	ClinGen TOPMed
CA362484013 rs1259501131	220	G>R		No	ClinGen TOPMed
TCGA novel	221	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3603519 rs750939732	223	E>D		No	ClinGen ExAC gnomAD
rs1484487621 CA362483993	223	E>K		No	ClinGen TOPMed
rs1189268018 CA362483971	226	Q>*		No	ClinGen TOPMed
rs1209399483 CA362483962	227	A>V		No	ClinGen TOPMed gnomAD
rs1582270161 CA362483927	232	D>A		No	ClinGen Ensembl
CA3603517 rs142747048	232	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345456055 CA362483912	234	L>R		No	ClinGen TOPMed gnomAD
CA362483907 rs1305280196	235	A>G		No	ClinGen gnomAD
CA3603514 rs759181231	238	K>E		No	ClinGen ExAC gnomAD
CA133172244 rs267600582	239	P>L		No	ClinGen Ensembl
rs1475517435 CA362483862	240	C>S		No	ClinGen gnomAD
rs199710404 CA3603489	242	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362483849 rs1347689208	242	S>N		No	ClinGen TOPMed
rs199710404 CA3603490	242	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780284741 CA3603485	254	W>R		No	ClinGen ExAC gnomAD
CA3603484 rs758656654	256	N>K		No	ClinGen ExAC gnomAD
rs1305354306 CA362483745	256	N>S		No	ClinGen gnomAD
CA133172209 rs997357910	257	R>S		No	ClinGen Ensembl
CA3603482 rs745922773	261	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3603480 rs754888398	266	I>M		No	ClinGen ExAC TOPMed gnomAD
CA133172180 rs901217372	268	M>I		No	ClinGen Ensembl
CA3603457 rs768061687	269	P>R		No	ClinGen ExAC gnomAD
rs753100211 CA3603458	269	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1261812664 CA362483643	270	A>V		No	ClinGen TOPMed gnomAD
CA3603455 rs764754645	273	K>E		No	ClinGen ExAC TOPMed gnomAD
rs764754645 CA3603454	273	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA3603453 rs761257946	275	R>K		No	ClinGen ExAC gnomAD
CA362483610 rs1235331286	275	R>W		No	ClinGen gnomAD
rs1440239994 CA362483602	276	A>V		No	ClinGen TOPMed gnomAD
CA362483595 rs1385661032	277	Q>R		No	ClinGen gnomAD
rs1290562687 CA362483564	281	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs75697860 CA362483541	284	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3603450 rs199815677	284	D>N		No	ClinGen ExAC TOPMed gnomAD
rs771855725 CA3603448	285	V>M		No	ClinGen ExAC gnomAD
CA3603446 COSM337940 rs372421247	287	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA362483528 rs372421247	287	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3603443 rs777968916	288	E>*		No	ClinGen ExAC TOPMed gnomAD
COSM1066751 rs777968916 CA3603444 COSM1595275	288	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770198444 CA3603442	291	N>D		No	ClinGen ExAC TOPMed gnomAD
CA133170626 rs748670202	291	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748670202 CA3603441	291	N>T		No	ClinGen ExAC TOPMed gnomAD
CA362483496 rs1308935049	292	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM76173 CA3603439 COSM1223216 rs755415164	293	G>S	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA362483468 rs1257091345	296	N>D		No	ClinGen TOPMed
rs953587150 CA133170600	299	M>V		No	ClinGen TOPMed
CA362483436 rs1380487464	300	A>V		No	ClinGen gnomAD
rs138948699 CA3603411	304	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362483376 rs1457374312	307	M>I		No	ClinGen gnomAD
CA362483381 rs1561733413	307	M>V		No	ClinGen Ensembl
CA3603410 rs751308865	308	S>R		No	ClinGen ExAC gnomAD
CA362483353 rs1415773707	311	S>P		No	ClinGen TOPMed
CA362483325 rs1212890924	315	K>T		No	ClinGen TOPMed
rs773505140 CA3603407	316	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1239479178 CA362483301	318	A>V		No	ClinGen TOPMed gnomAD
rs1401955223 CA362483289	320	V>A		No	ClinGen TOPMed
CA3603405 rs376949886	322	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1038372749 CA133169907	324	K>T		No	ClinGen gnomAD
rs140960830 CA3603402	325	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	328	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3603401 rs559248645	328	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1361771640 CA362483233	329	E>K		No	ClinGen TOPMed gnomAD
rs1561733291 CA362483189	333	D>N		No	ClinGen Ensembl
CA362483174 rs1441305957	335	T>A		No	ClinGen TOPMed
COSM1263841 CA3603376 COSM1263840 rs145725435	335	T>M	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs746879303 CA3603373	336	G>A		No	ClinGen ExAC gnomAD
rs758316782 CA3603371	337	N>S		No	ClinGen ExAC gnomAD
CA3603370 rs140595237	339	C>R		No	ClinGen ESP ExAC gnomAD
CA133169728 rs926124297	339	C>S		No	ClinGen TOPMed gnomAD
rs954735332 CA133169724	340	N>Y		No	ClinGen Ensembl
CA133169717 rs980228666	343	T>R		No	ClinGen TOPMed
TCGA novel	344	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451758275 CA362483110	345	L>V		No	ClinGen gnomAD
CA362483104 rs1400239312	346	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3603368 COSM172724 rs765186468	346	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1543528 rs146808625 CA3603366 COSM1543527	347	G>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA133169687 rs763228959	348	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3786938 CA3603365 rs764217466 COSM3786937	348	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201116631 CA3603363	349	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574978411 CA3603362	350	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1257182017 CA362483085	350	H>Y		No	ClinGen TOPMed
rs760031898 CA133169631	351	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760031898 CA3603361	351	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3603360 rs556805624	351	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1467397076 CA362483070	353	L>V		No	ClinGen gnomAD
rs143395580 CA3603359	354	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3603358 rs369386547	354	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1218777770 CA362483048	357	S>G		No	ClinGen gnomAD
TCGA novel	357	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1582264851 CA362483035	358	S>I		No	ClinGen Ensembl
rs1354410922 CA362483031	359	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775373995 CA3603354	359	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362483026 COSM390645 rs1277791700	360	E>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs772040968 CA3603352	361	K>E		No	ClinGen ExAC
rs1201111721 CA362483017	361	K>R		No	ClinGen TOPMed
CA3603288 rs755240281	362	I>M		No	ClinGen ExAC gnomAD
TCGA novel	366	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362482829 rs1171385800	371	I>T		No	ClinGen gnomAD
CA362482819 rs1263523673	372	K>R		No	ClinGen gnomAD
CA362482814 rs1433651469	373	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	373	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362482806 rs1482174002	374	I>L		No	ClinGen gnomAD
CA362482805 rs1482174002	374	I>V		No	ClinGen gnomAD
rs1257646227 CA362482793	375	Y>C		No	ClinGen gnomAD
TCGA novel	377	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306927795 CA362482763	379	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750903835 CA3603283	381	C>Y		No	ClinGen ExAC gnomAD
CA3603281 rs567856268	382	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362482735 rs1259821475	383	N>S		No	ClinGen TOPMed
CA3603280 rs776260736	384	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3603279 rs767268071	384	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362482711 rs1367054761	387	N>S		No	ClinGen TOPMed
CA362482705 rs1240907543	388	G>R		No	ClinGen gnomAD
CA3603276 rs766005020	390	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3603277 rs773935569	390	V>I		No	ClinGen ExAC TOPMed gnomAD
CA362482673 rs1582262577	393	E>K		No	ClinGen Ensembl
CA3603255 rs555870924	397	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761876328 CA3603254	397	E>D		No	ClinGen ExAC gnomAD
CA362482121 rs555870924	397	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776221334 CA3603253	402	V>M		No	ClinGen ExAC gnomAD
CA3603250 rs544075568	404	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs577008494 CA133162650	404	E>D		No	ClinGen 1000Genomes TOPMed
rs772317775 CA3603249	407	T>N		No	ClinGen ExAC gnomAD
CA362482056 rs1272629879	407	T>P		No	ClinGen gnomAD
TCGA novel CA3603248 rs745910884	408	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs558533150 CA3603247	409	K>E		No	ClinGen 1000Genomes ExAC
CA362482028 rs1310299900	411	V>M		No	ClinGen TOPMed
CA362481993 rs992160421	415	F>L		No	ClinGen TOPMed gnomAD
rs189653938 CA3603243	416	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362481991 rs189653938	416	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1403150617 CA362481984	417	Q>E		No	ClinGen gnomAD
rs185187584 CA362481971	418	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs938918400 CA133162603	418	D>N		No	ClinGen TOPMed
CA3603241 rs778237415	419	A>P		No	ClinGen ExAC gnomAD
CA133162590 rs778237415	419	A>T		No	ClinGen ExAC gnomAD
CA3603240 rs756577685	420	S>R		No	ClinGen ExAC gnomAD
rs757480803 CA3603239	421	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779832856 CA3603238	422	T>I		No	ClinGen ExAC gnomAD
rs758129487 CA3603237	423	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3603236 rs749894332	424	Y>*		No	ClinGen ExAC gnomAD
CA133162557 rs913656359	424	Y>H		No	ClinGen TOPMed
CA3603235 rs149075453	427	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs753796341 CA3603233	428	A>T		No	ClinGen ExAC gnomAD
rs987812449 CA133162540	428	A>V		No	ClinGen Ensembl
CA133162539 rs955240378	430	I>V		No	ClinGen Ensembl
rs763832326 CA3603232	432	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3603231 rs370166391	433	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs763993645 CA3603215	436	L>P		No	ClinGen ExAC gnomAD
CA362481832 rs1387433100	439	A>T		No	ClinGen TOPMed
CA362481814 rs7725201	441	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756098873 CA3603214	441	Y>C		No	ClinGen ExAC gnomAD
CA362481809 rs1170033928	442	E>G		No	ClinGen gnomAD
rs1325033060 CA362481812	442	E>K		No	ClinGen TOPMed
CA3603211 rs139061980	445	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA362481776 rs1194684342	447	E>K		No	ClinGen gnomAD
TCGA novel	451	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362481722 rs1561727148	454	R>G		No	ClinGen Ensembl
rs1236093977 CA362481714	455	W>R		No	ClinGen gnomAD
rs1561727139 CA362481686	459	R>*		No	ClinGen Ensembl
rs1034837398 CA133148084	460	S>T		No	ClinGen TOPMed
CA133148059 rs746323700	460	S>Y		No	ClinGen Ensembl
CA3603189 rs773357122	462	I>V		No	ClinGen ExAC gnomAD
CA362481624 rs1328686835	467	T>R		No	ClinGen gnomAD

No associated diseases with Q8N431

3 regional properties for Q8N431

Type	Name	Position	InterPro Accession
domain	Ras-like guanine nucleotide exchange factor, N-terminal	34 - 164	IPR000651
domain	Ras guanine-nucleotide exchange factors catalytic domain	196 - 447	IPR001895
conserved_site	Ras guanine-nucleotide exchange factor, conserved site	364 - 394	IPR019804

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

2 GO annotations of biological process

Name	Definition
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
Q9D300	Rasgef1c	Ras-GEF domain-containing family member 1C	Mus musculus (Mouse)	PR
Q28EC1	rasgef1b	Ras-GEF domain-containing family member 1B	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
A0JM95	rasgef1a	Ras-GEF domain-containing family member 1A	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MPQTLSASDM	VTPGSLSPPP	TEPTDGEQAG	QPLLDGAPSS	ASLETLIQHL	VPTADYYPEK
70	80	90	100	110	120
AYIFTFLLSS	RLFIEPRELL	ARVCHLCIEQ	QQLDKPVLDK	ARVRKFGPKL	LQLLAEWTET
130	140	150	160	170	180
FPRDFQEEST	IGHLKDVVGR	IAPCDEAYRK	RMHQLLQALH	QKLAALRQGP	EGLVGADKPI
190	200	210	220	230	240
SYRTKPPASI	HRELLGVCSD	PYTLAQQLTH	VELERLRHIG	PEEFVQAFVN	KDPLASTKPC
250	260	270	280	290	300
FSDKTSNLEA	YVKWFNRLCY	LVATEICMPA	KKKQRAQVIE	FFIDVARECF	NIGNFNSLMA
310	320	330	340	350	360
IISGMNMSPV	SRLKKTWAKV	RTAKFFILEH	QMDPTGNFCN	YRTALRGAAH	RSLTAHSSRE
370	380	390	400	410	420
KIVIPFFSLL	IKDIYFLNEG	CANRLPNGHV	NFEKFLELAK	QVGEFITWKQ	VECPFEQDAS
430	440	450	460
ITHYLYTAPI	FSEDGLYLAS	YESESPENQT	EKERWKALRS	SILGKT