AiPD: Autoinhibited Protein Database

Q5VV41

Gene name	ARHGEF16 (EPHEXIN4, NBR)
Protein name	Rho guanine nucleotide exchange factor 16
Names	Ephexin-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27237
EC number
Protein Class

Descriptions

(Annotation based on sequence homology with Q12774)
Dbl-related oncoproteins are guanine nucleotide exchange factors specific for Rho-family GTPases and typically possess tandem Dbl homology (DH) and pleckstrin homology (PH) domains that act in concert to catalyze exchange. The ability of many Dbl-family proteins to catalyze exchange is constitutively activated by truncations N-terminal to their DH domains. The Dbl-family protein Tim, called ARHGEF5, is autoinhibited by a short, helical motif immediately N-terminal to its DH domain, which directly occludes the catalytic surface of the DH domain to prevent GTPase activation.

Autoinhibitory domains (AIDs)

190-270 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

190-270 (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

2 structures for Q5VV41

Entry ID	Method	Resolution	Chain	Position	Source
1X6B	NMR	-	A	622-687	PDB
AF-Q5VV41-F1	Predicted				AlphaFoldDB

635 variants for Q5VV41

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1278800066 CA338007396	3	Q>H		No	ClinGen gnomAD
rs1045272383 CA17021710	4	R>Q		No	ClinGen TOPMed gnomAD
CA17021707 rs923250954	4	R>W		No	ClinGen TOPMed gnomAD
CA338007417 rs1221167194	7	D>A		No	ClinGen gnomAD
CA545025 rs746180064	8	S>G		No	ClinGen ExAC gnomAD
rs1569843707 CA338007433	9	S>C		No	ClinGen Ensembl
rs1489489503 CA338007478	16	G>R		No	ClinGen gnomAD
rs531725545 CA338007483	17	H>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs531725545 CA17021719	17	H>Y		No	ClinGen 1000Genomes TOPMed gnomAD
CA17021723 rs942176075	18	R>C		No	ClinGen TOPMed gnomAD
rs1038152955 CA17021727	18	R>H		No	ClinGen TOPMed gnomAD
rs1038152955 CA338007493	18	R>P		No	ClinGen TOPMed gnomAD
rs919685290 CA17021732	20	H>Y		No	ClinGen TOPMed gnomAD
CA545028 rs749822001	21	S>L		No	ClinGen ExAC TOPMed gnomAD
CA17021753 rs1026294109	24	R>Q		No	ClinGen TOPMed gnomAD
CA545031 VAR_083184 rs562018000	24	R>W		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA545033 rs543741796	26	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005578080 CA17021775	27	A>T		No	ClinGen TOPMed
CA338007552 rs1331226512	28	G>E		No	ClinGen gnomAD
CA338007549 rs1303275353	28	G>R		No	ClinGen TOPMed gnomAD
rs547639596 CA545035	29	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1013540948 CA17021803	30	N>I		No	ClinGen TOPMed gnomAD
CA545036 rs776410405	30	N>K		No	ClinGen ExAC gnomAD
rs1013540948 CA338007966	30	N>S		No	ClinGen TOPMed gnomAD
rs1348435549 CA338007990	34	G>A		No	ClinGen TOPMed
rs1348435549 CA338007989	34	G>E		No	ClinGen TOPMed
rs964155916 CA17021817	34	G>R		No	ClinGen TOPMed gnomAD
rs571133376 CA545038	37	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338008012 rs1453072806	38	V>I		No	ClinGen TOPMed
CA545039 rs751723822	39	R>H		No	ClinGen ExAC TOPMed gnomAD
CA17021820 rs1029499818	40	G>A		No	ClinGen gnomAD
rs1382414645 CA338008033	41	S>F		No	ClinGen gnomAD
rs1440611788 CA338008038 COSM1584468	42	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1440611788 CA338008039	42	P>R		No	ClinGen TOPMed gnomAD
CA17021837 rs757428713	43	R>C		No	ClinGen ExAC gnomAD
CA545041 rs570481939	43	R>H		No	ClinGen ExAC TOPMed gnomAD
CA545040 rs757428713	43	R>S		No	ClinGen ExAC gnomAD
rs1032146671 CA17021848	45	R>T		No	ClinGen TOPMed
rs550059606 CA17021858	47	D>G		No	ClinGen 1000Genomes gnomAD
rs533399353 CA338008063	47	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533399353 CA545043	47	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA17021856 rs533399353	47	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545044 rs780513427	48	A>G		No	ClinGen ExAC gnomAD
rs745825562 CA545046	49	A>T		No	ClinGen ExAC TOPMed gnomAD
CA17021869 rs569351799	51	Q>H		No	ClinGen 1000Genomes
CA338008096 rs1224184700	52	P>T		No	ClinGen gnomAD
rs915570600 CA17021875	55	P>L		No	ClinGen TOPMed gnomAD
rs1194570442 CA338008172	59	Q>*		No	ClinGen gnomAD
CA17021896 rs948482593	59	Q>R		No	ClinGen Ensembl
rs183210126 CA338008198	61	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183210126 CA545049	61	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747598385 CA545048	61	R>W		No	ClinGen ExAC gnomAD
CA338008201 rs1383565517	62	P>T		No	ClinGen gnomAD
rs555468581 COSM1584467 CA17021909	63	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA545050 rs772803322	63	P>S		No	ClinGen ExAC gnomAD
CA545052 rs770603333	64	G>V		No	ClinGen ExAC gnomAD
CA545054 rs565613511	66	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553183686 CA338008266	69	W>*		No	ClinGen Ensembl
CA338008269 rs1335701459	70	P>S		No	ClinGen gnomAD
CA338008278 rs1265908299	71	I>T		No	ClinGen TOPMed
CA338008276 rs1376434374	71	I>V		No	ClinGen gnomAD
rs775577377 CA545056	72	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1458057326 CA338008293	74	S>G		No	ClinGen TOPMed
CA338008309 rs1217376020	76	E>A		No	ClinGen gnomAD
CA545057 rs563433554	78	P>L		No	ClinGen ExAC gnomAD
rs1203069176 COSM1183501 CA338008328	79	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA545059 rs146093416	79	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182656393 CA338008332	80	A>T		No	ClinGen gnomAD
rs41315266 CA545062	81	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545061 rs556522799	81	L>V		No	ClinGen ExAC TOPMed gnomAD
CA338008391 rs1557687732	89	I>N		No	ClinGen Ensembl
CA545065 rs753226301	91	K>N		No	ClinGen ExAC gnomAD
CA17022001 rs929721800	92	S>G		No	ClinGen TOPMed
rs899794754 CA17022003	92	S>I		No	ClinGen TOPMed gnomAD
rs899794754 CA338008410	92	S>N		No	ClinGen TOPMed gnomAD
rs1396065397 CA338008412	92	S>R		No	ClinGen TOPMed
rs899794754 CA338008411	92	S>T		No	ClinGen TOPMed gnomAD
CA338008427 rs1361754286	95	V>L		No	ClinGen gnomAD
CA338008431 rs1314988339	96	A>T		No	ClinGen TOPMed
CA545066 rs41315268	97	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1280681887 CA338008451	98	K>N		No	ClinGen TOPMed gnomAD
rs1231437689 CA338008478	103	A>T		No	ClinGen TOPMed
CA338008486 rs1319134023	104	R>C		No	ClinGen gnomAD
rs777307132 CA545067 COSM3386094	104	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777307132 CA545068	104	R>L		No	ClinGen ExAC TOPMed gnomAD
rs576530769 CA338008520 CA545070	109	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338008528 rs977683455	110	A>E		No	ClinGen gnomAD
rs977683455 CA17022048	110	A>V		No	ClinGen gnomAD
CA17022069 rs905123448	111	A>T		No	ClinGen TOPMed gnomAD
rs957318612 CA17022079	112	V>I		No	ClinGen TOPMed gnomAD
CA338008569 rs1395369059	117	A>T		No	ClinGen TOPMed gnomAD
rs769511866 CA545072	118	A>T		No	ClinGen ExAC gnomAD
rs182727821 CA545074	119	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541615611 CA545073	119	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA17022089 rs866853037	120	R>Q		No	ClinGen TOPMed gnomAD
rs533341228 CA545075	120	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA338008593 rs1569844845	121	D>E		No	ClinGen Ensembl
CA338008595 rs1341507913	122	P>A		No	ClinGen gnomAD
rs1404952364 CA338008599	122	P>L		No	ClinGen gnomAD
rs773489898 CA338008606 CA545076	123	K>N		No	ClinGen ExAC gnomAD
rs1047293018 CA17022097	125	L>F		No	ClinGen gnomAD
CA545077 rs760793295	126	P>A		No	ClinGen ExAC gnomAD
rs760793295 CA338008618	126	P>S		No	ClinGen ExAC gnomAD
rs908674431 CA17022104	128	P>T		No	ClinGen gnomAD
rs1009645676 CA17022109	129	S>G		No	ClinGen TOPMed gnomAD
CA338008646 rs1219053224	130	F>C		No	ClinGen gnomAD
CA545078 rs550096684	131	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550096684 CA338008652	131	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545080 rs759904060	135	M>V		No	ClinGen ExAC TOPMed gnomAD
CA338008711 rs1293262980	137	V>A		No	ClinGen TOPMed
CA338008709 rs3806164	137	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_059796 CA545081 rs3806164	137	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753171238 CA545082	141	P>L		No	ClinGen ExAC gnomAD
TCGA novel	142	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338008760 COSM1152072 CA545084 rs777253808	142	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1017579615 CA17022139	143	G>D		No	ClinGen TOPMed
CA338008786 rs1361620400	144	M>T		No	ClinGen gnomAD
CA17022151 rs1051085115	147	R>Q		No	ClinGen TOPMed gnomAD
rs745895895 CA17022147	147	R>W		No	ClinGen TOPMed gnomAD
rs1437289775 CA338008819	148	N>H		No	ClinGen gnomAD
rs973644560 CA17022153	148	N>K		No	ClinGen TOPMed gnomAD
rs528907802 CA545086	149	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs891245485 CA17022192	150	R>Q		No	ClinGen TOPMed gnomAD
CA17022175 rs950860602 COSM1341914	150	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA17022198 rs982553884	151	N>K		No	ClinGen TOPMed gnomAD
TCGA novel	151	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338008882 rs1287647845	153	S>A		No	ClinGen gnomAD
CA338008907 rs1031473979	155	R>L		No	ClinGen TOPMed gnomAD
CA17022211 rs1031473979	155	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1453195678 CA338008904	155	R>W		No	ClinGen TOPMed gnomAD
CA17022215 rs957165131	156	A>V		No	ClinGen gnomAD
CA338008920 rs1180177270	157	A>S		No	ClinGen TOPMed gnomAD
COSM1183506 CA338008918 rs1180177270	157	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA338008929 rs1380483330	158	M>V		No	ClinGen TOPMed gnomAD
rs548670193 CA545088	162	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1444441159 CA338008976	162	G>R		No	ClinGen TOPMed gnomAD
CA338009035 rs1406525147	167	Q>R		No	ClinGen gnomAD
CA338009102 rs1328730554	173	L>P		No	ClinGen gnomAD
CA17022233 rs1022809354	179	A>P		No	ClinGen TOPMed gnomAD
CA17022236 rs1022809354	179	A>S		No	ClinGen TOPMed gnomAD
rs1214201854 CA338009178	179	A>V		No	ClinGen TOPMed
CA545089 rs745532787	185	S>N		No	ClinGen ExAC TOPMed gnomAD
CA338009282 rs1454052898	188	H>P		No	ClinGen TOPMed
rs187419731 CA17022258	190	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA17022256 rs950525199	190	R>W		No	ClinGen TOPMed gnomAD
CA338009315 rs1315558270	191	S>I		No	ClinGen TOPMed gnomAD
rs1315558270 CA338009310	191	S>N		No	ClinGen TOPMed gnomAD
rs865831098 CA17022262	192	P>L		No	ClinGen TOPMed gnomAD
CA17022271 rs1038532847	193	A>P		No	ClinGen TOPMed gnomAD
CA338009329 rs1038532847	193	A>T		No	ClinGen TOPMed gnomAD
CA338009352 rs1368328332	195	N>H		No	ClinGen TOPMed
CA17023705 rs562450072	198	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA338009650 rs765583778	199	L>P		No	ClinGen ExAC TOPMed
rs765583778 CA545100	199	L>Q		No	ClinGen ExAC TOPMed
CA545101 rs531452977	203	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA17023727 rs972436561	203	R>H		No	ClinGen TOPMed gnomAD
CA338009674 rs972436561	203	R>L		No	ClinGen TOPMed gnomAD
CA338009683 rs1377181626	205	H>Y		No	ClinGen gnomAD
rs1174559753 CA338009701	207	G>A		No	ClinGen gnomAD
rs763324211 CA545102	207	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338009749 rs1169999289	212	D>E		No	ClinGen TOPMed
CA545104 rs752041842	212	D>H		No	ClinGen ExAC TOPMed gnomAD
CA545105 rs752041842	212	D>N		No	ClinGen ExAC TOPMed gnomAD
CA17024287 rs951263827	213	P>S		No	ClinGen Ensembl
rs1331173506 CA338009777	216	Y>*		No	ClinGen gnomAD
CA338009779 rs1239031767	217	Q>E		No	ClinGen gnomAD
CA338009793 COSM1584465 rs1356322654	218	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs201141797 CA17024290	220	Q>E		No	ClinGen TOPMed gnomAD
CA338009808 rs1265378138	221	E>K		No	ClinGen gnomAD
rs1307646677 CA338009817	222	R>Q		No	ClinGen TOPMed gnomAD
rs994020413 CA17024299	222	R>W		No	ClinGen TOPMed gnomAD
CA338009820 rs1212142826	223	G>C		No	ClinGen gnomAD
rs1268230976 CA338009823	223	G>D		No	ClinGen TOPMed gnomAD
CA338009825 rs1268230976	223	G>V		No	ClinGen TOPMed gnomAD
CA338009839 rs1569852754	226	T>P		No	ClinGen Ensembl
CA338009857 rs1159491052	228	Q>R		No	ClinGen TOPMed gnomAD
CA17024324 rs41315274	229	E>D		No	ClinGen 1000Genomes
rs750003908 CA338009888	232	D>E		No	ClinGen ExAC TOPMed gnomAD
CA338009887 rs1206215337	232	D>G		No	ClinGen gnomAD
CA17024335 rs963993846	233	D>G		No	ClinGen Ensembl
rs192361344 CA545115	233	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338009891 rs192361344	233	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA17024348 rs975489179	234	I>M		No	ClinGen gnomAD
rs961080701 CA17024361	236	D>G		No	ClinGen TOPMed
CA338009909 rs933756988	236	D>H		No	ClinGen TOPMed gnomAD
CA17024358 rs933756988	236	D>N		No	ClinGen TOPMed gnomAD
rs924346370 CA17024370	237	E>K		No	ClinGen TOPMed gnomAD
CA545117 rs570142699	238	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338009931 rs1320291993	239	S>F		No	ClinGen gnomAD
rs775696698 CA545118	240	S>T		No	ClinGen ExAC TOPMed gnomAD
CA545119 rs763267254	242	E>K		No	ClinGen ExAC gnomAD
CA17024390 rs539031903	246	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs774903459 CA545121	247	V>A		No	ClinGen ExAC gnomAD
rs376771674 CA338010215	248	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338010211 rs1458428513	248	D>G		No	ClinGen gnomAD
CA17024399 COSM1341924 rs112226818	249	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1255262986 CA338010225	249	A>V		No	ClinGen gnomAD
rs1166860061 CA338010246	251	I>T		No	ClinGen gnomAD
rs1421811944 CA338010240	251	I>V		No	ClinGen TOPMed gnomAD
rs767045768 CA545123	253	V>I		No	ClinGen ExAC TOPMed gnomAD
rs749957365 CA545124	254	K>R		No	ClinGen ExAC gnomAD
rs894088724 CA338010288	255	S>N		No	ClinGen TOPMed
CA17024432 rs894088724	255	S>T		No	ClinGen TOPMed
CA338010303 rs1401832388	256	Y>C		No	ClinGen gnomAD
rs1167850642 CA338010297	256	Y>H		No	ClinGen gnomAD
rs1012460755 CA338010314	257	R>L		No	ClinGen TOPMed gnomAD
rs1012460755 CA17024436	257	R>Q		No	ClinGen TOPMed gnomAD
rs1462238873 CA338010310	257	R>W		No	ClinGen gnomAD
rs755568262 CA545126	259	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755568262 CA17024452	259	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1294444953 CA338010341	260	Q>E		No	ClinGen TOPMed gnomAD
rs371036704 CA545127	262	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338010372 rs1445710148	262	T>I		No	ClinGen TOPMed
rs1215742247 CA338010388	263	W>*		No	ClinGen TOPMed
CA338010421 rs1247604996	266	L>R		No	ClinGen TOPMed
rs779557111 CA545129	267	P>L		No	ClinGen ExAC TOPMed gnomAD
CA545128 rs555229648	267	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338010549 rs1289202393	269	V>L		No	ClinGen TOPMed
rs866095412 CA17025202	270	V>E		No	ClinGen Ensembl
rs1173839538 CA338010559	270	V>L		No	ClinGen gnomAD
rs1267008760 CA338010567	271	E>K		No	ClinGen TOPMed gnomAD
CA17025204 rs536919304	272	L>M		No	ClinGen ExAC TOPMed gnomAD
rs536919304 CA338010580	272	L>V		No	ClinGen ExAC TOPMed gnomAD
CA338010598 rs1294909094	273	G>D		No	ClinGen Ensembl
rs1177726926 CA338010627	276	D>N		No	ClinGen TOPMed
rs1300622583 CA338010644	277	Q>*		No	ClinGen gnomAD
CA545143 rs760221421	281	E>G		No	ClinGen ExAC TOPMed gnomAD
CA338010699 rs1435868096	281	E>K		No	ClinGen gnomAD
rs766009040 CA545144	282	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA17025210 rs193254384	283	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA338010731 rs1365953703	283	R>W		No	ClinGen gnomAD
CA545146 rs753518624	285	R>K		No	ClinGen ExAC gnomAD
rs1412433608 CA338010780	286	Q>R		No	ClinGen TOPMed
rs1378882155 CA338010791	287	E>K		No	ClinGen TOPMed gnomAD
rs776340254 CA545165	289	M>T		No	ClinGen ExAC gnomAD
CA338011196 rs764731212	292	I>M		No	ClinGen ExAC TOPMed gnomAD
CA338011191 rs1433727393	292	I>V		No	ClinGen TOPMed
CA338011199 rs1416543157 COSM3789908	293	L>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA545169 rs377203603	294	T>M		No	ClinGen ESP ExAC gnomAD
CA545168 rs752428641	294	T>S		No	ClinGen ExAC gnomAD
CA545171 rs199607431	295	S>L		No	ClinGen ExAC gnomAD
rs1336152191 CA338011220	296	E>K		No	ClinGen gnomAD
rs765928654	298	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	302	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA545175 rs753853992	302	S>R		No	ClinGen ExAC gnomAD
CA545177 rs778961636	304	S>G		No	ClinGen ExAC TOPMed gnomAD
CA545181 rs370324875	307	V>A		No	ClinGen TOPMed gnomAD
CA545180 rs138148473	307	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338011368 rs1299602396	308	E>G		No	ClinGen TOPMed
CA338011388 rs1475857312	309	E>D		No	ClinGen gnomAD
rs1347673148 CA338011375	309	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338011411 rs553627615	311	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553627615 CA545185	311	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113541223 CA545186	312	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338011417 rs1168747105	312	Q>R		No	ClinGen gnomAD
rs184135080 CA545187	313	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1377045352 COSM1584464 CA338011425	314	K>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA338011428 rs1415368028	314	K>R		No	ClinGen gnomAD
rs1048897523 CA17025404	317	R>L		No	ClinGen TOPMed gnomAD
CA17025402 rs1048897523	317	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs140093908 CA545188	317	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186944425 CA545189	318	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374733522 CA545192	320	V>M		No	ClinGen ExAC TOPMed gnomAD
rs767373641 CA338011480	322	Q>*		No	ClinGen ExAC gnomAD
CA17025411 rs1009273018	322	Q>H		No	ClinGen Ensembl
rs767373641 CA545193	322	Q>K		No	ClinGen ExAC gnomAD
CA338011500 rs1216547766	323	M>T		No	ClinGen gnomAD
rs1261604185 CA338011517	324	E>A		No	ClinGen gnomAD
CA545194 rs750388888	325	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA545195 rs754962544	326	H>Y		No	ClinGen ExAC gnomAD
CA545199 rs758713112	332	I>N		No	ClinGen ExAC gnomAD
rs1435054326 CA338011612	332	I>V		No	ClinGen gnomAD
rs778155365 CA545200	334	D>V		No	ClinGen ExAC gnomAD
TCGA novel	339	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338011703 rs1230665885	340	Q>*		No	ClinGen gnomAD
CA338011717 rs747312800	341	R>K		No	ClinGen ExAC gnomAD
rs747312800 CA545201	341	R>T		No	ClinGen ExAC gnomAD
CA338012507 rs1360440450	342	F>L		No	ClinGen TOPMed
rs1202077589 CA338012535	344	E>D		No	ClinGen TOPMed
COSM1183498 rs776606730 CA338012525	344	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA545251 rs776606730	344	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA545252 rs759584964	346	L>P		No	ClinGen ExAC gnomAD
CA338012575 rs1421014462	347	E>G		No	ClinGen gnomAD
TCGA novel	347	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA545253 rs536938385	349	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1146305 CA545254 rs536938385	349	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1428821464 CA338012599	349	R>W		No	ClinGen TOPMed gnomAD
rs1393678138 CA338012611	350	H>P		No	ClinGen gnomAD
CA338012645 rs1314023789	353	Q>E		No	ClinGen gnomAD
rs373744834 CA17026377	357	E>D		No	ClinGen ESP TOPMed gnomAD
CA545258 COSM3400694 rs761054802	357	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338012718 rs1173870961	360	S>G		No	ClinGen TOPMed
CA545259 rs766705783	361	D>E		No	ClinGen ExAC gnomAD
CA17026382 rs1041033252	362	I>S		No	ClinGen Ensembl
CA545260 rs141425462	362	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA545261 rs140197967	365	E>K		No	ClinGen ESP ExAC gnomAD
rs891899020 CA17026385	366	H>D		No	ClinGen Ensembl
CA545263 rs147324873 COSM1245421	367	A>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA17026389 rs147324873	367	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338012803 rs2185639	370	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2185639 VAR_059797 CA545265	370	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA545266 rs746687298	371	F>S		No	ClinGen ExAC gnomAD
CA545268 rs780913205	372	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA338012864 rs1269485615	374	Y>C		No	ClinGen TOPMed
rs775577434 CA545271	376	A>T		No	ClinGen ExAC TOPMed gnomAD
CA545272 rs41315284	380	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	382	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338012988 rs1304325364	383	Y>C		No	ClinGen TOPMed
CA338013009 rs1345874445	385	Q>*		No	ClinGen gnomAD
rs773464400 CA545274	386	R>C		No	ClinGen ExAC gnomAD
CA545275 rs760848608	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1373404770 CA338013037	387	T>M		No	ClinGen TOPMed gnomAD
CA17026405 rs961785781	387	T>P		No	ClinGen Ensembl
CA338013052 rs1303926506	389	Q>*		No	ClinGen gnomAD
CA338013049 rs1303926506	389	Q>K		No	ClinGen gnomAD
rs1336584151 CA338013054	389	Q>R		No	ClinGen TOPMed
CA545277 rs777039397	390	K>E		No	ClinGen ExAC TOPMed gnomAD
rs759907724 CA545278	392	I>L		No	ClinGen ExAC gnomAD
rs201550974 CA545312	393	S>N		No	ClinGen 1000Genomes ExAC
rs770137000 CA545313	394	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1310934694 CA338013167	395	N>D		No	ClinGen TOPMed gnomAD
rs1233320630 CA338013179	396	A>T		No	ClinGen gnomAD
CA545316 rs768974266	397	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1215926915 CA338013199	397	A>V		No	ClinGen gnomAD
rs774950266 CA545317	398	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761184077 CA545319	399	R>*		No	ClinGen ExAC TOPMed gnomAD
rs761184077 CA545318	399	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338003423 rs1209365753	399	R>Q		No	ClinGen gnomAD
rs766266355 CA545322	404	E>D		No	ClinGen ExAC
CA545323 rs539145625	405	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539145625 CA545324	405	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338003464 rs1380742872	406	E>K		No	ClinGen TOPMed
rs757295883 CA545327	408	R>P		No	ClinGen ExAC gnomAD
rs757295883 CA545328	408	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200517853 CA545326	408	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746074957 CA545329	409	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338003491 rs1415298818	410	A>V		No	ClinGen TOPMed gnomAD
CA338003493 rs1569868705	411	C>G		No	ClinGen Ensembl
CA545334 rs199934599	412	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA16967543 rs199934599	412	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338003508 rs1347656135	413	G>A		No	ClinGen gnomAD
TCGA novel	413	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338003507 rs1347656135	413	G>D		No	ClinGen gnomAD
CA338003509 rs1347656135	413	G>V		No	ClinGen gnomAD
CA338003516 rs1282889642	415	P>A		No	ClinGen TOPMed gnomAD
rs1199346568 CA338003520	415	P>R		No	ClinGen TOPMed
rs1282889642 CA338003517	415	P>S		No	ClinGen TOPMed gnomAD
rs772917146 CA545337	416	M>V		No	ClinGen ExAC TOPMed gnomAD
CA545341 rs140335574	422	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs752571119 CA545343	423	P>L		No	ClinGen ExAC
rs1453598747 CA338003576	424	M>R		No	ClinGen gnomAD
CA16967628 rs1042336374	426	R>Q		No	ClinGen TOPMed gnomAD
CA338003589 rs1171575959	426	R>W		No	ClinGen TOPMed gnomAD
CA545344 rs375667861	429	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA338003605 rs1466546202	429	R>W		No	ClinGen gnomAD
rs774192169 CA545399	436	T>M		No	ClinGen ExAC TOPMed gnomAD
rs761529641 CA545400	437	L>F		No	ClinGen ExAC gnomAD
CA338003756 rs1569872034	437	L>R		No	ClinGen Ensembl
rs773056587 CA545402	443	G>A		No	ClinGen ExAC gnomAD
CA338003871 rs1214066172	444	H>Q		No	ClinGen TOPMed
CA545404 rs765283215	446	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202013038 CA545405	448	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs113833249 CA16968852	449	K>N		No	ClinGen Ensembl
TCGA novel	450	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338003965 rs1450500694	451	A>V		No	ClinGen gnomAD
CA338003980 rs1212677048	452	S>R		No	ClinGen gnomAD
rs567717218 CA545406	453	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138805620 CA545407	453	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751904444 CA545408	455	L>V		No	ClinGen ExAC gnomAD
rs1264895205 CA338004035	457	A>D		No	ClinGen TOPMed
CA545410 rs781687266	458	I>V		No	ClinGen ExAC gnomAD
CA16968900 rs990619147	459	S>G		No	ClinGen Ensembl
rs750937556 CA545411	460	K>Q		No	ClinGen ExAC gnomAD
CA338005189 rs1479981531	467	E>K		No	ClinGen TOPMed gnomAD
CA545433 rs778489047	468	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1474882807 CA338005212	468	G>V		No	ClinGen gnomAD
rs1420225741 CA338005227	469	A>D		No	ClinGen TOPMed gnomAD
rs1420225741 CA338005226	469	A>V		No	ClinGen TOPMed gnomAD
CA16969645 rs868831744	471	R>G		No	ClinGen Ensembl
rs1324045675 CA338005249	471	R>K		No	ClinGen gnomAD
rs1037369125 CA16969647	473	E>K		No	ClinGen TOPMed
rs202079025 CA16969652	474	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA545435 rs147480195	474	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338005285 rs147480195	474	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs928929036 CA16969679	477	Q>E		No	ClinGen TOPMed
rs143811823 CA545436	477	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA16969682 rs1057048956	477	Q>R		No	ClinGen TOPMed
CA338005336 rs1353008582	478	M>R		No	ClinGen gnomAD
TCGA novel	479	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA545438 rs201584820	479	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338005358 rs1290882805	480	T>A		No	ClinGen TOPMed gnomAD
CA338005365 rs776739628	480	T>K		No	ClinGen ExAC TOPMed gnomAD
CA545439 rs776739628	480	T>M	Variant assessed as Somatic; 0.0001272 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768901451 CA545441	482	H>N		No	ClinGen ExAC gnomAD
CA545442 rs774598957	483	T>K		No	ClinGen ExAC TOPMed gnomAD
CA338005408 rs1253109566	485	L>V		No	ClinGen gnomAD
rs1569874290 CA338005432	487	F>S		No	ClinGen Ensembl
TCGA novel	489	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs904649080 CA16969706	490	V>I		No	ClinGen TOPMed
CA338005979 rs1569879531	492	S>P		No	ClinGen Ensembl
rs777092820 CA545470	493	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777092820 CA545471	493	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765785402 CA545472	494	P>S		No	ClinGen ExAC gnomAD
CA545474 rs762554808	496	I>M		No	ClinGen ExAC TOPMed gnomAD
rs751301556 CA545476	498	A>P		No	ClinGen ExAC TOPMed gnomAD
COSM3400697 rs751301556 CA545477	498	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA545478 rs781197441	498	A>V		No	ClinGen ExAC TOPMed gnomAD
CA545481 rs756061209	499	S>C		No	ClinGen ExAC TOPMed gnomAD
CA545480 rs756061209	499	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1011296615 CA16971829	499	S>P		No	ClinGen TOPMed
rs748140580 CA338006018	500	R>G		No	ClinGen ExAC TOPMed gnomAD
CA545483 rs190407416	500	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545484 rs190407416	500	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545482 rs748140580	500	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771283374 CA338006025	501	W>*		No	ClinGen ExAC TOPMed gnomAD
rs771283374 CA545486	501	W>C		No	ClinGen ExAC TOPMed gnomAD
CA545485 rs143151133	501	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320733424 CA338006039	504	K>E		No	ClinGen gnomAD
CA545488 rs368039398	504	K>R		No	ClinGen ESP ExAC TOPMed
rs368039398 CA545489	504	K>T		No	ClinGen ESP ExAC TOPMed
rs776087317 CA545490	505	R>C		No	ClinGen ExAC TOPMed gnomAD
CA545491 rs148890269	505	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338006043 rs776087317	505	R>S		No	ClinGen ExAC TOPMed gnomAD
rs150993772 CA545493	506	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756082900 CA16971884	507	E>K		No	ClinGen Ensembl
rs750178905 CA545496	510	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1229247672 CA338006079	511	V>L		No	ClinGen gnomAD
rs753864323 CA545499	515	G>R		No	ClinGen ExAC gnomAD
rs758377873 CA545500	517	F>L		No	ClinGen ExAC
CA545501 rs777897887	518	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747219652 CA338006126	518	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747219652 CA545502	518	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	518	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338006128 rs1484973107	519	K>*		No	ClinGen gnomAD
rs1449554526 CA338006141	520	I>M		No	ClinGen TOPMed
rs147069493 CA545504	523	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757401859 CA545503	523	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746181723 CA545505	524	P>A		No	ClinGen ExAC gnomAD
rs889836209 CA16971973	524	P>L		No	ClinGen TOPMed
CA338006160 rs746181723	524	P>S		No	ClinGen ExAC gnomAD
CA545506 rs770242146	525	T>A		No	ClinGen ExAC TOPMed
CA545507 rs201865831	525	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545509 rs143848272	526	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295723908 CA338006182	528	L>F		No	ClinGen gnomAD
rs1352424190 CA338006186	528	L>P		No	ClinGen TOPMed
CA545510 rs773937645	531	F>S		No	ClinGen ExAC TOPMed gnomAD
rs761415998 CA545511	532	N>S		No	ClinGen ExAC gnomAD
rs373186673 CA545513	533	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA545514 rs567294084	536	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1267051937 CA338006249	538	T>I		No	ClinGen gnomAD
CA338006253 rs1356711132	539	K>T		No	ClinGen gnomAD
CA338006260 rs1251998376	540	K>E		No	ClinGen TOPMed
rs766238192 CA545517	540	K>M		No	ClinGen ExAC gnomAD
rs753715321 CA545518	540	K>N		No	ClinGen ExAC gnomAD
rs200201965 CA338006290	542	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338006293 rs1229060465	543	E>*		No	ClinGen gnomAD
CA338006291 rs1229060465	543	E>K		No	ClinGen gnomAD
CA16972734 rs900800148	545	S>N		No	ClinGen TOPMed gnomAD
rs777401029 CA545554	546	Y>C		No	ClinGen ExAC gnomAD
CA545557 rs776167813	547	M>I		No	ClinGen ExAC gnomAD
CA545556 rs74050529 RCV000961249	547	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746515500 CA545555	547	M>V		No	ClinGen ExAC gnomAD
CA545558 rs759352437	549	Q>*		No	ClinGen ExAC gnomAD
rs1196033219 CA338006336	549	Q>R		No	ClinGen gnomAD
CA545559 rs144834615	550	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs201826500 COSM2078839 CA545561	552	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs199700720 CA545564	553	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199700720 CA545563	553	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA545565 rs766577565	554	M>I		No	ClinGen ExAC gnomAD
CA338006368 rs1363293205	554	M>K		No	ClinGen gnomAD
CA338006385 rs1390605104	556	H>R		No	ClinGen gnomAD
CA338006394 rs1292706422	557	I>T		No	ClinGen gnomAD
rs779491191 CA545568	558	Q>R		No	ClinGen ExAC gnomAD
CA545570 rs201085717	559	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201085717 CA545569	559	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338006437 rs1338973868	563	E>D		No	ClinGen TOPMed
CA338006434 rs1569881856	563	E>G		No	ClinGen Ensembl
CA16972906 rs371557779	564	P>A		No	ClinGen ESP TOPMed gnomAD
rs770395002 CA545574	564	P>L		No	ClinGen ExAC gnomAD
CA338006439 rs371557779	564	P>S		No	ClinGen ESP TOPMed gnomAD
rs769559119 CA545577	565	S>A		No	ClinGen ExAC gnomAD
CA338006445 rs375250490	565	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375250490 CA545578	565	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242323406 CA338006447	566	E>K		No	ClinGen TOPMed
rs1489788224 CA338006456	567	L>I		No	ClinGen gnomAD
CA545579 rs749083124	568	P>H		No	ClinGen ExAC gnomAD
rs1007181746 CA16972985	571	G>E		No	ClinGen Ensembl
CA338006476 CA545582 rs368261361	571	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372889057 CA545585	573	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372889057 CA545584	573	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143167978 CA545586	575	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA338006499 rs143167978	575	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA545587 rs574552924	575	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143167978 CA338006498	575	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347888168 CA338006511	577	S>P		No	ClinGen gnomAD
CA545590 rs758867671	579	V>A		No	ClinGen ExAC gnomAD
CA545589 rs139024357	579	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338006538 rs1289648599	581	H>Q		No	ClinGen TOPMed gnomAD
CA338006545 rs1329512104	582	P>L		No	ClinGen gnomAD
rs145070334 CA16973035	583	F>L		No	ClinGen ESP gnomAD
rs752045791 CA545592	583	F>V		No	ClinGen ExAC gnomAD
CA545593 rs201282947	584	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA545594 rs573176641	586	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA338006567 rs1222991518	586	T>S		No	ClinGen gnomAD
rs1234197304 CA338006572	587	L>Q		No	ClinGen TOPMed
CA16973061 rs745391774	588	L>F		No	ClinGen ExAC TOPMed gnomAD
rs755693409 CA545596	588	L>H		No	ClinGen ExAC gnomAD
rs745391774 CA545595	588	L>V		No	ClinGen ExAC TOPMed gnomAD
CA545598 rs559918389	589	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA16973073 rs368911182	589	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1406836753 CA338006583	590	N>D		No	ClinGen gnomAD
rs749031132 CA545600	591	S>G		No	ClinGen ExAC gnomAD
CA338006597 rs768387686	591	S>R		No	ClinGen ExAC TOPMed gnomAD
CA545602 rs774317323	592	E>K		No	ClinGen ExAC gnomAD
TCGA novel	593	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446112110 CA338006606	593	G>R		No	ClinGen TOPMed
rs748105379 CA545603	593	G>V		No	ClinGen ExAC gnomAD
CA338006612 rs1446846571	594	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771034945 CA545604	594	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771034945 CA545605	594	R>L		No	ClinGen ExAC TOPMed gnomAD
CA545606 rs759695331	595	Q>E		No	ClinGen ExAC gnomAD
rs373360896 CA545607	598	L>F		No	ClinGen ExAC TOPMed gnomAD
CA338006641 rs1274323830	598	L>P		No	ClinGen gnomAD
rs1569882509 CA338006655	601	S>A		No	ClinGen Ensembl
rs142202998 CA545608	602	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147698918 CA545610	603	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413413644 CA338006668	603	D>G		No	ClinGen TOPMed
CA545612 rs752093271	604	S>A		No	ClinGen ExAC
CA545617 rs150491102	605	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749891677 CA338006677	605	A>S		No	ClinGen ExAC gnomAD
rs749891677 CA545615	605	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150491102 CA545616	605	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338006706 rs371687244	608	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371687244 CA545651	608	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778212772 CA16974333	608	R>W		No	ClinGen gnomAD
CA545653 rs766885423	610	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA545652 rs569298978	610	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1256226384 CA338006719	611	W>*		No	ClinGen TOPMed gnomAD
rs376384481 CA338006731	612	I>M		No	ClinGen ESP ExAC gnomAD
CA338006735 rs1164678933	613	V>A		No	ClinGen TOPMed gnomAD
CA545656 rs139869522	613	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA545657 rs752445170	614	A>V		No	ClinGen ExAC gnomAD
rs1326064594 CA338006744	615	L>F		No	ClinGen gnomAD
rs767889207	617	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA545660 rs777765984	618	S>C		No	ClinGen ExAC TOPMed gnomAD
CA338006762 rs777765984	618	S>R		No	ClinGen ExAC TOPMed gnomAD
CA545663 rs751409746	620	R>K		No	ClinGen ExAC gnomAD
rs751409746 CA338006779	620	R>T		No	ClinGen ExAC gnomAD
rs757190094 CA545664	621	Q>H		No	ClinGen ExAC gnomAD
rs554773495 CA545665	622	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA338006825 rs1291876553	627	S>G		No	ClinGen gnomAD
rs149281412 CA545687	632	P>L		No	ClinGen ESP ExAC gnomAD
rs1363618315 CA338006878	633	Q>R		No	ClinGen TOPMed
rs747328085 CA545689	635	E>D		No	ClinGen ExAC gnomAD
CA545688 rs778006269	635	E>K		No	ClinGen ExAC TOPMed gnomAD
CA545690 rs771336733	637	T>I		No	ClinGen ExAC gnomAD
CA545692 rs1201756366	639	A>G		No	ClinGen TOPMed gnomAD
rs776974677 CA338006913	639	A>P		No	ClinGen ExAC TOPMed gnomAD
rs776974677 CA545691	639	A>T		No	ClinGen ExAC TOPMed gnomAD
CA338006916 rs1201756366	639	A>V		No	ClinGen TOPMed gnomAD
rs756467358	641	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180731913 CA16974716	642	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs956193838 CA16974712	642	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs180731913 CA545694	642	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1429596848 CA338006949	644	Q>R		No	ClinGen gnomAD
CA545696 rs185082066	645	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762579977 CA545698	646	D>E		No	ClinGen ExAC TOPMed gnomAD
rs774194896 CA545700	647	E>*		No	ClinGen ExAC TOPMed gnomAD
CA545699 rs774194896	647	E>K		No	ClinGen ExAC TOPMed gnomAD
CA16974800 rs764190798	648	V>I		No	ClinGen Ensembl
CA545701 rs767411536	649	T>S		No	ClinGen ExAC gnomAD
CA338006987 rs1406573310	651	Q>*		No	ClinGen TOPMed gnomAD
rs553044853 CA16974820	653	A>S		No	ClinGen Ensembl
CA545702 rs750316678	653	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA545704 rs766233207	655	V>M		No	ClinGen ExAC gnomAD
CA16974836 rs922995832	656	V>I		No	ClinGen TOPMed gnomAD
rs1417455929 CA338007029	658	V>L		No	ClinGen TOPMed
rs142502156 CA545707	660	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA545708 rs751823476	660	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs550462828 CA16974851	661	Q>H		No	ClinGen gnomAD
CA338007057 rs1250284602	662	E>V		No	ClinGen gnomAD
rs757560692 CA545709	663	D>G		No	ClinGen ExAC gnomAD
rs957758901 CA16974866	664	G>R		No	ClinGen Ensembl
rs1228152822 CA338007085	665	W>G		No	ClinGen gnomAD
rs778509287 CA545736	667	Y>*		No	ClinGen ExAC gnomAD
CA545738 rs147222724	669	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA16975468 rs533912444	670	R>T		No	ClinGen 1000Genomes TOPMed
rs760500669 CA545740	672	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA545739 rs772762781	672	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs186738663 CA545743 CA545742	674	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	675	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765160364 CA545744	676	T>M		No	ClinGen ExAC gnomAD
rs761817777 CA16975511	678	W>*		No	ClinGen ExAC TOPMed gnomAD
rs761817777 CA545746	678	W>C		No	ClinGen ExAC TOPMed gnomAD
CA545748 rs56309807 VAR_061796	681	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338007196 rs1478985616	682	D>G		No	ClinGen gnomAD
CA16975534 rs556367147	684	A>T		No	ClinGen 1000Genomes gnomAD
rs1354823928 CA338007210	684	A>V		No	ClinGen gnomAD
rs74614375 CA545751	685	R>C		No	ClinGen ExAC TOPMed gnomAD
rs74614375 CA545750	685	R>G		No	ClinGen ExAC TOPMed gnomAD
CA16975571 rs534395921	685	R>H		No	ClinGen TOPMed gnomAD
rs74614375 CA545749	685	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1385359729 CA338007225	687	I>F		No	ClinGen gnomAD
rs1385359729 CA338007223	687	I>L		No	ClinGen gnomAD
rs755478188 CA545752	687	I>N		No	ClinGen ExAC gnomAD
rs779595415 CA545753	688	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1569888440 CA338007229	688	T>P		No	ClinGen Ensembl
CA338007244 rs1396214920	690	R>C		No	ClinGen TOPMed
rs747646674 CA545754	690	R>H		No	ClinGen ExAC TOPMed gnomAD
CA545755 rs148938641	693	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208212397 CA338007266	694	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA545757 rs746709375	695	G>A		No	ClinGen ExAC TOPMed gnomAD
CA338007274 rs1569888543	695	G>S		No	ClinGen Ensembl
CA338007282 rs1183948320	696	N>S		No	ClinGen gnomAD
CA16975646 rs1044711339	698	R>C	Variant assessed as Somatic; 5.091e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1197199321 CA338007295	698	R>H		No	ClinGen TOPMed
CA545759 rs776339132	702	R>C		No	ClinGen ExAC gnomAD
CA545760 rs745691728	702	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745691728 CA338007322	702	R>P		No	ClinGen ExAC TOPMed gnomAD
CA338007320 rs776339132	702	R>S		No	ClinGen ExAC gnomAD
CA545762 rs775451335	704	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769665390 CA545761	704	R>W		No	ClinGen ExAC gnomAD
rs1569888705 CA338007336	705	V>G		No	ClinGen Ensembl
rs761921315 CA338007333	705	V>L		No	ClinGen ExAC gnomAD
CA545763 rs761921315	705	V>M		No	ClinGen ExAC gnomAD
CA16975714 rs372641115	706	E>D		No	ClinGen ESP TOPMed gnomAD
rs1569888723 CA338007340	706	E>G		No	ClinGen Ensembl
CA545764 rs145970985	706	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs886649014 CA16975723	707	T>A		No	ClinGen gnomAD
rs376620856 CA545765	707	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217721002 CA338007353	708	D>E		No	ClinGen TOPMed gnomAD
rs1016535839 CA16975759	709	V>G		No	ClinGen TOPMed gnomAD
CA338007357 rs1265288306	709	V>L		No	ClinGen TOPMed gnomAD
rs1265288306 CA338007355	709	V>M		No	ClinGen TOPMed gnomAD
rs1466245760 CA338007362	710	V>E		No	ClinGen TOPMed

No associated diseases with Q5VV41

5 regional properties for Q5VV41

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	284 - 468	IPR000219
domain	SH3 domain	629 - 689	IPR001452
domain	Pleckstrin homology domain	501 - 622	IPR001849
domain	ARHGEF16/ARHGEF26, SH3 domain	633 - 686	IPR035797
domain	Ephexin-like, PH domain	489 - 622	IPR047270

Functions

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

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

5 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
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.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
receptor tyrosine kinase binding	Binding to a receptor that possesses protein tyrosine kinase activity.
small GTPase binding	Binding to a small monomeric GTPase.

3 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
positive regulation of protein localization to plasma membrane	Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5YM69	ARHGEF35	Rho guanine nucleotide exchange factor 35	Homo sapiens (Human)	PR
Q8IW93	ARHGEF19	Rho guanine nucleotide exchange factor 19	Homo sapiens (Human)	SS
O94989	ARHGEF15	Rho guanine nucleotide exchange factor 15	Homo sapiens (Human)	SS
Q12774	ARHGEF5	Rho guanine nucleotide exchange factor 5	Homo sapiens (Human)	EV
Q8N5V2	NGEF	Ephexin-1	Homo sapiens (Human)	EV
Q96DR7	ARHGEF26	Rho guanine nucleotide exchange factor 26	Homo sapiens (Human)	SS
E9Q7D5	Arhgef5	Rho guanine nucleotide exchange factor 5	Mus musculus (Mouse)	SS
Q8CHT1	Ngef	Ephexin-1	Mus musculus (Mouse)	SS
Q5FWH6	Arhgef15	Rho guanine nucleotide exchange factor 15	Mus musculus (Mouse)	SS
Q8BWA8	Arhgef19	Rho guanine nucleotide exchange factor 19	Mus musculus (Mouse)	PR
Q3U5C8	Arhgef16	Rho guanine nucleotide exchange factor 16	Mus musculus (Mouse)	PR
Q5BKC9	Ngef	Ephexin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAQRHSDSSL	EEKLLGHRFH	SELRLDAGGN	PASGLPMVRG	SPRVRDDAAF	QPQVPAPPQP
70	80	90	100	110	120
RPPGHEEPWP	IVLSTESPAA	LKLGTQQLIP	KSLAVASKAK	TPARHQSFGA	AVLSREAARR
130	140	150	160	170	180
DPKLLPAPSF	SLDDMDVDKD	PGGMLRRNLR	NQSYRAAMKG	LGKPGGQGDA	IQLSPKLQAL
190	200	210	220	230	240
AEEPSQPHTR	SPAKNKKTLG	RKRGHKGSFK	DDPQLYQEIQ	ERGLNTSQES	DDDILDESSS
250	260	270	280	290	300
PEGTQKVDAT	IVVKSYRPAQ	VTWSQLPEVV	ELGILDQLST	EERKRQEAMF	EILTSEFSYQ
310	320	330	340	350	360
HSLSILVEEF	LQSKELRATV	TQMEHHHLFS	NILDVLGASQ	RFFEDLEQRH	KAQVLVEDIS
370	380	390	400	410	420
DILEEHAEKH	FHPYIAYCSN	EVYQQRTLQK	LISSNAAFRE	ALREIERRPA	CGGLPMLSFL
430	440	450	460	470	480
ILPMQRVTRL	PLLMDTLCLK	TQGHSERYKA	ASRALKAISK	LVRQCNEGAH	RMERMEQMYT
490	500	510	520	530	540
LHTQLDFSKV	KSLPLISASR	WLLKRGELFL	VEETGLFRKI	ASRPTCYLFL	FNDVLVVTKK
550	560	570	580	590	600
KSEESYMVQD	YAQMNHIQVE	KIEPSELPLP	GGGNRSSSVP	HPFQVTLLRN	SEGRQEQLLL
610	620	630	640	650	660
SSDSASDRAR	WIVALTHSER	QWQGLSSKGD	LPQVEITKAF	FAKQADEVTL	QQADVVLVLQ
670	680	690	700
QEDGWLYGER	LRDGETGWFP	EDFARFITSR	VAVEGNVRRM	ERLRVETDV