AiPD: Autoinhibited Protein Database

Q8IW93

Gene name	ARHGEF19
Protein name	Rho guanine nucleotide exchange factor 19
Names	Ephexin-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:128272
EC number
Protein Class

Descriptions

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)

292-298 (Autoinhibitory helix) SS

Target domain	376-560 (DH domain)
Relief mechanism	PTM
Assay

AID

292-298 (Autoinhibitory helix)

Target domain

376-560 (DH domain)

Relief mechanism

PTM (Phosphorylation of autoinhibitory helix)

Assay

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

Yohe ME et al. (2007) "Auto-inhibition of the Dbl family protein Tim by an N-terminal helical motif", The Journal of biological chemistry, 282, 13813-23

Autoinhibited structure

Activated structure

1 structures for Q8IW93

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IW93-F1	Predicted				AlphaFoldDB

756 variants for Q8IW93

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA338640376 rs1290200912	6	P>A		No	ClinGen gnomAD
rs746489846 CA626338	7	A>D		No	ClinGen ExAC gnomAD
rs1569720046 CA338640333	8	T>P		No	ClinGen Ensembl
rs1569720024 CA338640272	9	L>P		No	ClinGen Ensembl
CA338640220 rs747799963	12	H>N		No	ClinGen ExAC TOPMed gnomAD
CA338640215 rs1569719983	12	H>P		No	ClinGen Ensembl
CA338640208 CA626333 rs754830126	12	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA626335 rs747799963	12	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1414836068 CA338640113	15	G>E		No	ClinGen gnomAD
rs1414836068 CA338640109	15	G>V		No	ClinGen gnomAD
CA626331 rs138137791	18	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1569719875 CA338639975	19	T>P		No	ClinGen Ensembl
rs756038586 CA626330	19	T>S		No	ClinGen ExAC gnomAD
CA338639950 rs1569719858	20	A>P		No	ClinGen Ensembl
rs143314517 CA626329	21	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338639916 rs1467126969	22	H>Y		No	ClinGen TOPMed
CA626328 rs767508462	23	P>R		No	ClinGen ExAC gnomAD
rs1212822690 CA338639845	24	V>A		No	ClinGen TOPMed gnomAD
rs747406766 CA18335298	25	A>V		No	ClinGen gnomAD
CA338639810 rs1403325111	26	V>G		No	ClinGen gnomAD
rs374359395 CA18335286	26	V>L		No	ClinGen ESP TOPMed
rs774781733 CA626326	29	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs763450731 CA626324	30	E>D		No	ClinGen ExAC TOPMed gnomAD
rs371536904 CA626323	31	S>T		No	ClinGen ESP ExAC gnomAD
CA18335217 rs938903664	33	S>Y		No	ClinGen Ensembl
TCGA novel	35	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338639603 rs1473670681	35	A>V		No	ClinGen gnomAD
rs1391353411 CA338639570	36	E>D		No	ClinGen TOPMed gnomAD
CA18335209 rs927518713	37	L>P		No	ClinGen Ensembl
rs771545514 CA626319	39	A>D		No	ClinGen ExAC TOPMed gnomAD
rs201049497 CA626320	39	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201049497 CA626321	39	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771545514 CA338639507	39	A>V		No	ClinGen ExAC TOPMed gnomAD
rs747789840 CA626318	42	P>A		No	ClinGen ExAC
rs754740315 CA626316	43	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1400124155 CA338639401	44	S>T		No	ClinGen TOPMed
rs146778002 CA626314	45	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs983753403 CA18335125	46	V>A		No	ClinGen gnomAD
rs148225711 CA626312	47	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148225711 CA626313	47	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs933755444 CA18335107	51	F>S		No	ClinGen TOPMed
CA338639268 rs1166677389	53	V>I		No	ClinGen TOPMed
CA18335103 rs918292657	54	A>S		No	ClinGen TOPMed gnomAD
rs12048007 CA18335083	56	E>*		No	ClinGen gnomAD
CA338639228 rs12048007	56	E>Q		No	ClinGen gnomAD
rs1194445916 CA338639208	57	E>A		No	ClinGen TOPMed
CA338639212 rs1255783102 COSM1718088	57	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
CA338639198 rs1302931411	58	L>F		No	ClinGen TOPMed gnomAD
rs757461488 CA626310	59	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA626311 rs781328251	59	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1287418700 CA338639179	60	A>T		No	ClinGen gnomAD
CA18335065 rs998422552	61	P>L		No	ClinGen Ensembl
CA338639154 rs1430482663	61	P>S		No	ClinGen gnomAD
rs1489099705 CA338639138	62	G>D		No	ClinGen TOPMed
rs1267556854 CA338639130	63	S>R		No	ClinGen TOPMed
CA626308 rs773105913	64	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773105913 CA338639117	64	R>G		No	ClinGen ExAC TOPMed gnomAD
CA626307 rs763288455	64	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773105913 CA338639118	64	R>S		No	ClinGen ExAC TOPMed gnomAD
rs965262766 CA18335063	65	W>*		No	ClinGen gnomAD
CA338639045 rs1569719230	69	T>P		No	ClinGen Ensembl
CA18335062 rs979998580	70	P>S		No	ClinGen TOPMed gnomAD
rs543718685 CA626304	72	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA338638921 rs1212207345	78	W>*		No	ClinGen gnomAD
CA338638918 rs1212207345	78	W>C		No	ClinGen gnomAD
CA626303 rs777058294	78	W>R		No	ClinGen ExAC gnomAD
rs771593175 CA626302	79	P>T		No	ClinGen ExAC gnomAD
CA626299 rs768251204	84	G>R		No	ClinGen ExAC TOPMed gnomAD
CA626298 rs748955209	86	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	86	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200637061 CA338638766	88	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA338638761 rs1272951676	88	E>G		No	ClinGen gnomAD
rs200637061 CA626296	88	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA338638722 rs1286446395	90	T>I		No	ClinGen gnomAD
CA626294 CA626293 rs757290370	92	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338638707 rs757290370	92	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1311682506 CA338638680	93	G>E		No	ClinGen gnomAD
CA338638684 rs1569719041	93	G>R		No	ClinGen Ensembl
rs780583014	94	M>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	94	M>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1023632000 CA18334939	94	M>R		No	ClinGen TOPMed
rs752925050 CA626288	95	R>P		No	ClinGen ExAC TOPMed gnomAD
CA626289 rs752925050	95	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA626290 rs778010842	95	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765617540 CA626287	97	S>R		No	ClinGen ExAC TOPMed gnomAD
rs754342051 CA626285	99	A>V		No	ClinGen ExAC gnomAD
CA338638499 rs1451536247	101	S>T		No	ClinGen gnomAD
CA626283 rs761195322	102	W>*		No	ClinGen ExAC TOPMed gnomAD
CA338638470 rs761195322	102	W>S		No	ClinGen ExAC TOPMed gnomAD
rs145606060 CA626282	103	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs373430766 CA626281	103	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762590754 CA626280	104	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA338638388 rs1384856990	105	C>*		No	ClinGen TOPMed
CA626279 rs368955020	105	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338638378 rs927455637	106	P>A		No	ClinGen gnomAD
CA18334824 rs927455637	106	P>S		No	ClinGen gnomAD
CA626278 rs769599453	107	G>R		No	ClinGen ExAC gnomAD
CA338638341 rs1289597389	108	A>D		No	ClinGen gnomAD
CA338638349 rs1168276862	108	A>T		No	ClinGen TOPMed gnomAD
rs781061138 CA626276	110	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1043894993 CA18334813	111	P>A		No	ClinGen TOPMed
CA18334812 rs113214680	114	E>V		No	ClinGen Ensembl
CA338638264 rs1295965263	115	G>R		No	ClinGen gnomAD
CA338638237 rs1440969217	116	P>L		No	ClinGen gnomAD
CA626274 rs746945143	117	W>R		No	ClinGen ExAC gnomAD
CA338638203 rs1557543113	118	S>G		No	ClinGen Ensembl
rs777992906 CA626273	118	S>N		No	ClinGen ExAC gnomAD
CA626272 rs758605984	119	P>L		No	ClinGen ExAC gnomAD
rs748376278 CA626271	120	R>*	Variant assessed as Somatic; 9.841e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338638162 rs942246822	120	R>L		No	ClinGen TOPMed gnomAD
rs942246822 CA18334773	120	R>Q		No	ClinGen TOPMed gnomAD
CA626268 rs754105424	123	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs766746286 CA626267	124	P>T		No	ClinGen ExAC gnomAD
rs146746432 CA626266	126	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA626265 rs376047635	126	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762420524 CA338638047	127	R>P		No	ClinGen ExAC TOPMed gnomAD
CA626263 rs762420524	127	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139558887 CA626264	127	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA626262 rs142866947	130	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338637975 rs1367855906	131	G>D		No	ClinGen gnomAD
rs373392080 CA626261	131	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA18334717 COSM1718087 rs759238415	132	S>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA626260 rs759238415	132	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338637947 rs770913116	133	E>K		No	ClinGen ExAC TOPMed gnomAD
CA626258 rs770913116	133	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA626256 rs772251757 CA626255	134	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756719819	135	K>missing	Variant assessed as Somatic; 4.998e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs748140409 CA626253	137	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	138	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396492178 CA338637683	139	R>H		No	ClinGen TOPMed gnomAD
CA626229 rs770114190	140	K>Q		No	ClinGen ExAC gnomAD
CA338637675 rs1434252533	140	K>R		No	ClinGen gnomAD
rs746181581 CA626228	141	M>L		No	ClinGen ExAC gnomAD
CA626227 rs781549574	142	R>G		No	ClinGen ExAC gnomAD
CA626226 rs199881500	142	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338637658 rs781549574	142	R>W		No	ClinGen ExAC gnomAD
rs1270254659 CA338637650	143	V>M		No	ClinGen gnomAD
CA338637569 rs1188720360	145	Q>L		No	ClinGen gnomAD
CA626223 rs754561950	146	R>G		No	ClinGen ExAC TOPMed gnomAD
CA626222 rs139304863	146	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs139304863 CA626221	146	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs754561950 CA18334282	146	R>S		No	ClinGen ExAC TOPMed gnomAD
CA338637513 rs1176181081	148	E>D		No	ClinGen TOPMed
rs760430055 CA626220	148	E>G		No	ClinGen ExAC TOPMed gnomAD
rs760430055 CA18334249	148	E>V		No	ClinGen ExAC TOPMed gnomAD
CA338637499 rs1273238750	149	V>D		No	ClinGen gnomAD
rs1015674371 CA18334244	150	P>H		No	ClinGen TOPMed gnomAD
CA338637493 rs1489971913	150	P>S		No	ClinGen TOPMed gnomAD
CA338637489 rs1250482036	151	G>R		No	ClinGen gnomAD
rs1245258685 CA338637452	153	P>S		No	ClinGen gnomAD
CA338637432 rs1291439497	154	E>D		No	ClinGen gnomAD
rs767352434 CA626218	157	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767352434 COSM898899 CA338637403	157	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1005177187 CA18334220	161	E>D		No	ClinGen TOPMed gnomAD
rs201299867 CA626216	162	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs221058 CA626214	163	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031950 rs221058 CA626213	163	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs221058 CA338637271	163	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA626212 rs769946125	165	V>I		No	ClinGen ExAC gnomAD
rs746093266 CA626211	166	V>M		No	ClinGen ExAC gnomAD
rs781404886 CA626210	167	Q>*		No	ClinGen ExAC gnomAD
rs1164890336 CA338637099	170	A>G		No	ClinGen gnomAD
CA338637074 rs1232909276	172	S>N		No	ClinGen gnomAD
rs376043942 CA626209	175	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	176	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA626207 rs750079298	176	P>T		No	ClinGen ExAC TOPMed gnomAD
rs758856499 CA626206	179	E>A		No	ClinGen ExAC gnomAD
CA338636915 rs1271174619	180	L>W		No	ClinGen gnomAD
CA626205 rs779728648	182	G>E		No	ClinGen ExAC gnomAD
CA626204 rs779728648	182	G>V		No	ClinGen ExAC gnomAD
rs1281290226 CA338636826	184	T>I		No	ClinGen gnomAD
CA338636829 rs1281290226	184	T>N		No	ClinGen gnomAD
rs201803513 CA18334170	185	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs755764228 CA626203	186	V>M		No	ClinGen ExAC gnomAD
CA626202 rs777967118	187	S>I		No	ClinGen ExAC gnomAD
rs943743152 CA18334140	187	S>R		No	ClinGen Ensembl
rs910957026 CA18334134	188	L>I		No	ClinGen Ensembl
rs1392672765 CA338636760	189	E>K		No	ClinGen gnomAD
rs761719029 CA626200	191	P>S		No	ClinGen ExAC gnomAD
CA626198 rs764053442	192	E>Q		No	ClinGen ExAC gnomAD
CA338636649 rs1389270414	194	R>K		No	ClinGen TOPMed
rs370419332 CA18334123	197	S>*		No	ClinGen ESP TOPMed gnomAD
rs1469555271 CA338636553	198	A>T		No	ClinGen gnomAD
CA626195 rs775481791	199	S>*		No	ClinGen ExAC gnomAD
CA626193 rs769926392	201	L>M		No	ClinGen ExAC gnomAD
CA338636472 rs1286330576	201	L>P		No	ClinGen gnomAD
CA18334103 rs947134453	202	M>L		No	ClinGen Ensembl
rs759739968 CA626192	202	M>T		No	ClinGen ExAC TOPMed gnomAD
rs141036884 CA626190	204	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1381875665 CA338636283	208	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338636219 rs1369053239	210	R>H		No	ClinGen gnomAD
rs1303056779 CA338636182	212	G>R		No	ClinGen gnomAD
rs773474416 CA626188	212	G>V		No	ClinGen ExAC gnomAD
COSM898897 CA626187 rs576557883	213	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA338636153 rs1418685460	213	R>W		No	ClinGen TOPMed
CA338636060 rs1430032157	216	A>T		No	ClinGen gnomAD
rs779710164 CA626185	217	A>S		No	ClinGen ExAC TOPMed gnomAD
CA18334081 rs779710164	217	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755744201 CA626184	217	A>V		No	ClinGen ExAC gnomAD
CA338636031 rs557208352	218	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150124398 CA626182	218	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs557208352 CA626183	218	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1479730290 CA338635977	219	A>G		No	ClinGen TOPMed gnomAD
CA338635999 rs1256899803	219	A>T		No	ClinGen TOPMed
CA626180 rs188635842	221	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338635917 rs1475657817	222	S>F		No	ClinGen gnomAD
CA338635922 rs1475657817	222	S>Y		No	ClinGen gnomAD
CA626179 rs763800522	225	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1190875871 CA338635831	225	G>C		No	ClinGen gnomAD
CA338635827 rs763800522	225	G>D		No	ClinGen ExAC TOPMed gnomAD
CA338635779 rs1213125574	226	T>N		No	ClinGen gnomAD
CA18334059 rs752686937 CA626177	227	G>R		No	ClinGen ExAC TOPMed
rs367723648 CA626175	228	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs759650014 CA626174	229	A>D		No	ClinGen ExAC gnomAD
rs766571423 CA338635660	230	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766571423 CA626172	230	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338635656 rs374851282	231	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA626171 rs374851282	231	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA626170 CA18334032 rs773562779	232	G>R		No	ClinGen ExAC gnomAD
rs762310716 CA626143	233	K>*		No	ClinGen ExAC gnomAD
CA338634469 rs1474199562	234	A>T		No	ClinGen gnomAD
rs763374027 CA626141	235	S>A		No	ClinGen ExAC TOPMed gnomAD
rs763374027 CA626140	235	S>P		No	ClinGen ExAC TOPMed gnomAD
CA338634438 rs1247751479	236	G>A		No	ClinGen TOPMed
rs221057 CA626139	238	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs221057 VAR_031951 CA626138	238	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1260048834 CA338634390	240	R>G		No	ClinGen TOPMed gnomAD
rs777439419 CA626136	240	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777439419 CA338634364	240	R>P		No	ClinGen ExAC TOPMed gnomAD
rs777439419 CA18333872	240	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1183287284 CA338634357	241	S>G		No	ClinGen gnomAD
CA338634341 rs1290459011	241	S>R		No	ClinGen Ensembl
rs747887692 CA626134	242	V>A		No	ClinGen ExAC gnomAD
rs1231799789 CA338634339	242	V>I		No	ClinGen TOPMed
rs1231952450 CA338634321	243	E>K		No	ClinGen gnomAD
COSM3789025 rs947080338 CA18333854 CA338634299	244	M>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA626133 rs778689663	244	M>K		No	ClinGen ExAC gnomAD
rs778689663 CA18333859	244	M>T		No	ClinGen ExAC gnomAD
rs1223907787 COSM1185339 CA338634281	245	S>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1557542184 CA338634270	246	G>V		No	ClinGen Ensembl
CA338634253 rs1375058338	247	D>E		No	ClinGen gnomAD
rs1461476961 CA338634268	247	D>N		No	ClinGen gnomAD
rs754880936 CA626132	248	R>P		No	ClinGen ExAC gnomAD
rs1569715499 CA338634222	249	V>G		No	ClinGen Ensembl
CA338634209 rs1327708500	250	S>L		No	ClinGen gnomAD
rs756200451 CA626129	253	A>G		No	ClinGen ExAC gnomAD
rs750642881 CA626128	257	S>L		No	ClinGen ExAC gnomAD
CA626127 rs767807844	258	R>*		No	ClinGen ExAC gnomAD
rs767807844 CA18333820	258	R>G		No	ClinGen ExAC gnomAD
rs1406027194 CA338634017	258	R>Q		No	ClinGen TOPMed gnomAD
rs762151192 CA626126	260	G>D		No	ClinGen ExAC gnomAD
CA18333816 rs200726118	261	D>A		No	ClinGen 1000Genomes
CA338633948 rs928549481	261	D>N		No	ClinGen gnomAD
CA18333817 rs928549481	261	D>Y		No	ClinGen gnomAD
CA338633923 rs1384359397 CA338633921	262	W>R		No	ClinGen TOPMed
CA626105 rs543690491	267	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs753133782 CA626104	269	T>K		No	ClinGen ExAC gnomAD
rs1569715003 CA338633636	269	T>P		No	ClinGen Ensembl
rs554428936 CA626102	270	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772639785 CA626101	270	Q>R		No	ClinGen ExAC gnomAD
CA338633546 rs1172057141	271	E>D		No	ClinGen TOPMed gnomAD
CA338633579 rs1157560469	271	E>Q		No	ClinGen TOPMed
rs143178874 CA626100	273	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474822317 CA338633395	276	G>E		No	ClinGen TOPMed
rs1427202743 CA338633368	278	R>G		No	ClinGen gnomAD
rs1263177671 CA338633360	278	R>K		No	ClinGen gnomAD
rs1195047845 CA338633348	279	S>G		No	ClinGen TOPMed
rs144999332 CA626099	279	S>I		No	ClinGen ESP ExAC gnomAD
rs144999332 CA338633341	279	S>N		No	ClinGen ESP ExAC gnomAD
rs139312017 CA338633329	279	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA626096 rs748996867	281	N>D		No	ClinGen ExAC gnomAD
rs993664495 CA18333691	281	N>K		No	ClinGen Ensembl
rs748996867 CA626097	281	N>Y		No	ClinGen ExAC gnomAD
CA626093 rs745805697	282	E>D		No	ClinGen ExAC TOPMed gnomAD
rs147894053 CA626095	282	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA626092 rs781407343	283	R>W		No	ClinGen ExAC gnomAD
TCGA novel	284	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773478693 CA626090	287	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773478693 CA18333670	287	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	289	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA626089 rs144638812	290	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472201266 CA338632794	292	S>F		No	ClinGen gnomAD
CA338632762 rs1437465285	294	L>P		No	ClinGen gnomAD
rs865985978 CA18333342	295	Y>H		No	ClinGen Ensembl
rs750977155 CA626063	296	Q>*		No	ClinGen ExAC gnomAD
rs1214113142 CA338632695	298	Y>C		No	ClinGen gnomAD
rs1469757487 CA338632678	299	S>C		No	ClinGen gnomAD
CA338632608 rs1209289139	300	D>Y		No	ClinGen TOPMed gnomAD
rs1351559143 CA338632568	301	V>A		No	ClinGen gnomAD
rs1237107404 CA338632527	303	S>R		No	ClinGen gnomAD
rs1376447920 CA338632417	308	R>G		No	ClinGen TOPMed gnomAD
CA338632413 rs1304605784	308	R>Q		No	ClinGen gnomAD
rs1190114024 CA338632391	310	Q>*		No	ClinGen TOPMed
CA338632352 rs1443654674	311	Q>*		No	ClinGen gnomAD
CA338632269 rs1323537059	312	R>H		No	ClinGen gnomAD
CA338632329 rs1369388214	312	R>S		No	ClinGen gnomAD
TCGA novel	314	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338632184 rs1187479509	315	E>K		No	ClinGen TOPMed
CA338632128 rs775349914	316	G>D		No	ClinGen TOPMed gnomAD
CA18333329 rs775349914	316	G>V		No	ClinGen TOPMed gnomAD
CA338632112 rs1379366211	317	P>R		No	ClinGen gnomAD
CA338632116 rs1417415328	317	P>S		No	ClinGen gnomAD
CA18333325 rs906951870	318	G>A		No	ClinGen Ensembl
rs931434596 CA18333328	318	G>R		No	ClinGen TOPMed
CA626061 rs762510477	319	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338632052 rs948621558	320	E>*		No	ClinGen TOPMed gnomAD
CA18333302 rs948621558	320	E>K		No	ClinGen TOPMed gnomAD
CA338632058 rs948621558	320	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	321	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286353476 CA338631986	321	A>S		No	ClinGen gnomAD
CA338631942 rs752442735	322	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	322	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	322	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338631933 rs1236927013	323	G>D		No	ClinGen gnomAD
CA338631936 rs1281357871	323	G>R		No	ClinGen gnomAD
rs991722659 CA18333295	324	A>T		No	ClinGen TOPMed
CA338631884 CA338631887 rs759364576	325	E>D		No	ClinGen ExAC TOPMed gnomAD
rs765092083 CA626059	325	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338631830 rs1319704595	327	G>E		No	ClinGen gnomAD
CA338631840 rs1328719023	327	G>R		No	ClinGen gnomAD
TCGA novel	328	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359470752 CA338631814	328	P>S		No	ClinGen gnomAD
rs1173937457 CA338631808	329	G>R		No	ClinGen gnomAD
rs1436223505	330	P>R	Variant assessed as Somatic; 0.0001013 impact. [NCI-TCGA]	No	NCI-TCGA
CA338631769 rs1459883117	331	P>L		No	ClinGen TOPMed
CA338631779 rs1171787843	331	P>T		No	ClinGen gnomAD
CA338631757 rs1475668577	332	R>L		No	ClinGen TOPMed gnomAD
CA338631764 rs1475668577	332	R>P		No	ClinGen TOPMed gnomAD
rs1475668577 CA338631760	332	R>Q		No	ClinGen TOPMed gnomAD
rs1243840799 CA338631731	333	A>V		No	ClinGen gnomAD
CA338631700 rs1161329158	334	N>S		No	ClinGen gnomAD
rs770931370 CA626056	335	L>F		No	ClinGen ExAC gnomAD
CA338631665 rs1258338412	335	L>R		No	ClinGen gnomAD
CA338631645 rs1441136938	336	S>F		No	ClinGen TOPMed gnomAD
rs1464180292 CA338631639	337	P>L		No	ClinGen TOPMed
rs1278288354 CA338631614	338	S>I		No	ClinGen TOPMed gnomAD
rs1278288354 CA338631622	338	S>N		No	ClinGen TOPMed gnomAD
CA18333261 rs540837636	338	S>R		No	ClinGen 1000Genomes
rs1264334859 CA338631606	339	S>C		No	ClinGen TOPMed
CA338631602 rs1342082350	339	S>T		No	ClinGen gnomAD
CA338631574 rs1180461326	340	S>F		No	ClinGen gnomAD
CA338631555 rs1216229759	342	R>G		No	ClinGen TOPMed gnomAD
rs977532804 CA18333241	342	R>P		No	ClinGen TOPMed
rs760662303 CA626055	343	A>E		No	ClinGen ExAC gnomAD
CA338631545 rs1372011348	343	A>P		No	ClinGen TOPMed
CA338631543 rs1372011348	343	A>T		No	ClinGen TOPMed
rs1449686097 CA338631501	345	R>S		No	ClinGen gnomAD
TCGA novel	346	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	348	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772249289 CA626053	348	R>G		No	ClinGen ExAC gnomAD
CA626052 rs748299712	348	R>L		No	ClinGen ExAC TOPMed gnomAD
CA338631456 rs748299712	348	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1421539587 CA338631450	349	G>R		No	ClinGen gnomAD
CA338631443 rs1168384030	349	G>V		No	ClinGen gnomAD
rs1477472900 CA338631427	350	S>F		No	ClinGen gnomAD
rs1190167861 CA338631398	352	F>L		No	ClinGen gnomAD
rs1418582340 CA338631402	352	F>S		No	ClinGen TOPMed gnomAD
rs1048998647 CA338631386	353	S>L		No	ClinGen gnomAD
CA18333238 rs1048998647	353	S>W		No	ClinGen gnomAD
CA338631355 rs1557541508	355	W>*		No	ClinGen Ensembl
rs1237189520 CA338631349	356	Q>*		No	ClinGen gnomAD
CA338631340 rs1205627603	356	Q>H		No	ClinGen TOPMed gnomAD
rs769627926 CA626051	358	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768901581 CA18333231	359	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1198530976 CA338631302	359	P>L		No	ClinGen gnomAD
rs768901581 CA626050	359	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768901581 CA18333234	359	P>T		No	ClinGen ExAC TOPMed gnomAD
CA18333223 rs972094081	361	V>L		No	ClinGen Ensembl
CA338631271 rs1195827338	362	R>C		No	ClinGen TOPMed
rs1195827338 CA338631273	362	R>G		No	ClinGen TOPMed
rs1195827338 CA338631275	362	R>S		No	ClinGen TOPMed
rs749606046 CA626049	363	G>C		No	ClinGen ExAC TOPMed gnomAD
rs749606046 CA18333222	363	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338631247 rs1376475417	364	S>R		No	ClinGen gnomAD
rs944755297 CA18333218	365	G>A		No	ClinGen Ensembl
rs1283282496 CA338631231	365	G>S		No	ClinGen TOPMed gnomAD
CA338631216 rs1402144880	366	V>D		No	ClinGen TOPMed gnomAD
rs572041237 CA626048	366	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA338631208 rs1348401602	367	L>P		No	ClinGen TOPMed
CA338631201 rs1464983206	368	A>P		No	ClinGen gnomAD
CA338631202 rs1464983206	368	A>T		No	ClinGen gnomAD
rs1395202588 CA338631193	368	A>V		No	ClinGen gnomAD
CA338631190 rs1305335296	369	T>A		No	ClinGen TOPMed
rs1167185212 CA338631183	369	T>M		No	ClinGen gnomAD
rs1413320052 CA338631176	370	L>P		No	ClinGen gnomAD
rs1422178908 CA338631180	370	L>V		No	ClinGen gnomAD
rs1177950418 CA338631166	371	S>R		No	ClinGen gnomAD
rs558406468 CA626047	371	S>T		No	ClinGen 1000Genomes ExAC
rs1471298490 CA338631158	372	L>P		No	ClinGen TOPMed gnomAD
rs1178428072 CA338631154	373	R>G		No	ClinGen gnomAD
CA626046 rs751007060	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338631152 rs1178428072	373	R>W		No	ClinGen gnomAD
CA18333191 rs1004581538	374	D>A		No	ClinGen TOPMed
CA338631146 rs1019608401	374	D>H		No	ClinGen TOPMed
rs1019608401 CA18333195	374	D>N		No	ClinGen TOPMed
rs777123754 CA626045	375	C>S		No	ClinGen ExAC gnomAD
rs1223095429 CA338631124	375	C>Y		No	ClinGen TOPMed gnomAD
CA338631092 rs1172126593	377	L>R		No	ClinGen TOPMed
CA338631097 rs1377699091	377	L>V		No	ClinGen TOPMed
CA18333190 rs887114114	378	Q>P		No	ClinGen TOPMed
CA338631073 rs757965676	379	E>A		No	ClinGen ExAC TOPMed gnomAD
CA626044 rs757965676	379	E>G		No	ClinGen ExAC TOPMed gnomAD
rs774349394 CA626012	383	E>*		No	ClinGen ExAC
rs1322845965 CA338629574	385	I>L		No	ClinGen gnomAD
CA626011 rs764227101	385	I>N		No	ClinGen ExAC gnomAD
rs775727303 CA626009	386	T>I		No	ClinGen ExAC gnomAD
rs1288480401 CA338629490	388	E>A		No	ClinGen gnomAD
TCGA novel	388	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159140014 CA338629482	389	A>T		No	ClinGen TOPMed
CA338629470 rs1438744364	389	A>V		No	ClinGen Ensembl
rs746193609 CA626007	391	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA338629450 rs1439150287	391	Y>H		No	ClinGen gnomAD
CA626006 rs776872474	393	H>P		No	ClinGen ExAC gnomAD
rs1485912228 CA338629384	394	S>I		No	ClinGen TOPMed
rs771398924 CA338629360	396	S>*		No	ClinGen ExAC gnomAD
CA626005 rs771398924	396	S>L		No	ClinGen ExAC gnomAD
rs149392425 CA626004	397	V>E		No	ClinGen ESP ExAC gnomAD
CA338629331 rs1379382760	399	V>M		No	ClinGen gnomAD
CA338629319 rs1172960928	400	G>C		No	ClinGen gnomAD
rs1488689252 CA338629209	404	G>D		No	ClinGen gnomAD
rs1214679318 CA338629176	406	A>T		No	ClinGen gnomAD
CA626002 rs754582009	407	E>D		No	ClinGen ExAC TOPMed gnomAD
CA338629097 rs1279761875	409	S>N		No	ClinGen gnomAD
CA338629073 rs1221356277	410	E>K		No	ClinGen gnomAD
CA338629063 rs1344534535	410	E>V		No	ClinGen TOPMed
CA338628987 rs1219805271	413	G>E		No	ClinGen gnomAD
CA338628994 rs1261412767	413	G>R		No	ClinGen TOPMed
TCGA novel	414	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230240792 CA338628963	414	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA18332853 rs866679544	415	Q>H		No	ClinGen Ensembl
CA18332843 rs748921446	416	D>E		No	ClinGen ExAC TOPMed gnomAD
CA338628920 rs1299504529	416	D>G		No	ClinGen gnomAD
rs1340553246 CA338628929	416	D>N		No	ClinGen gnomAD
CA626000 rs779816629	417	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1342682337 CA338628876	418	Q>*		No	ClinGen TOPMed
rs1334561688 CA338628848	419	W>R		No	ClinGen gnomAD
rs201790040 CA625999	421	F>V		No	ClinGen ExAC gnomAD
CA625998 rs750179245	422	S>F		No	ClinGen ExAC
CA625997 rs542224977	423	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA18332823 rs746481111	424	L>P		No	ClinGen Ensembl
TCGA novel	425	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338628702 rs1238306039	426	E>D		No	ClinGen gnomAD
CA338628725 rs1477614450	426	E>K		No	ClinGen gnomAD
rs1569709855 CA338628680	427	V>G		No	ClinGen Ensembl
CA338628688 rs1212656560	427	V>I		No	ClinGen gnomAD
CA338628677 rs1440999644	428	K>E		No	ClinGen gnomAD
COSM1295407 CA338628660 rs1199746111	428	K>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA625995 rs751557328	428	K>R		No	ClinGen ExAC gnomAD
rs764139133 CA625994	430	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	432	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338628440 rs1236758784	433	R>S		No	ClinGen gnomAD
rs1158404467 CA338628520	433	R>T		No	ClinGen TOPMed
rs757095406 CA18332805	434	F>L		No	ClinGen ExAC TOPMed gnomAD
CA625977 rs751385510	435	L>P		No	ClinGen ExAC gnomAD
rs867058301 CA18332804	437	D>N		No	ClinGen Ensembl
rs1223212015 CA338628304	440	Q>*		No	ClinGen gnomAD
rs961932153 CA18332802	440	Q>R		No	ClinGen TOPMed gnomAD
rs921628073 CA18332799	441	R>L		No	ClinGen TOPMed gnomAD
rs921628073 CA338628287	441	R>Q		No	ClinGen TOPMed gnomAD
rs141569326 CA625975	443	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752707094 CA625974	444	A>T		No	ClinGen ExAC gnomAD
rs1223086386 CA338628236	446	V>M		No	ClinGen gnomAD
rs759787427 CA625972	448	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	448	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368790017 CA625971	449	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338628194 rs1214341830	450	S>G		No	ClinGen TOPMed
CA338628190 rs1298981787	450	S>T		No	ClinGen TOPMed gnomAD
rs766732885 CA625970	451	V>M		No	ClinGen ExAC gnomAD
rs772652968 CA338628113	454	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772652968 COSM1335923 CA625967	454	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338628107 rs1267594140	455	V>M		No	ClinGen gnomAD
rs1489074625 CA338628085	457	D>G		No	ClinGen gnomAD
CA625965 rs775060975	458	H>R		No	ClinGen ExAC gnomAD
rs762419098 CA625966	458	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338628044 rs1312670962	459	C>*		No	ClinGen gnomAD
CA625964 rs41269185	460	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749228844 CA625962	461	A>V		No	ClinGen ExAC TOPMed gnomAD
CA625960 rs746747728	462	F>L		No	ClinGen ExAC gnomAD
rs1358935854 CA338627962	463	R>C		No	ClinGen gnomAD
rs201371795 CA625959	463	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779025536 CA625956	466	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA338627908 rs1480397985	467	L>M		No	ClinGen gnomAD
rs1427918888 CA338627890	468	P>S		No	ClinGen gnomAD
CA338627837 rs1478596093	472	N>D		No	ClinGen gnomAD
CA625955 rs200482299	474	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA625954 rs753979719	477	E>K		No	ClinGen ExAC gnomAD
rs760994566 CA625953	478	R>C		No	ClinGen ExAC TOPMed gnomAD
CA625952 rs760994566	478	R>G		No	ClinGen ExAC TOPMed gnomAD
CA625951 rs141303748	478	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338627720 rs141303748	478	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338627722 rs141303748	478	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA625950 rs768065793	479	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762396817 CA625949	480	Y>H		No	ClinGen ExAC gnomAD
CA338627670 rs1220582781	481	Q>*		No	ClinGen gnomAD
rs202140503 CA625948	481	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758918956 CA625946	482	R>C		No	ClinGen ExAC gnomAD
CA625947 rs758918956	482	R>G		No	ClinGen ExAC gnomAD
rs1396857194 CA338627646	482	R>H		No	ClinGen gnomAD
rs1472531197	484	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569708212 CA338626551	486	E>G		No	ClinGen Ensembl
rs1443726888 CA338626560	486	E>K		No	ClinGen gnomAD
CA625929 rs764447582	487	N>D		No	ClinGen ExAC gnomAD
CA338626488 rs1180356135	488	P>L		No	ClinGen gnomAD
CA625928 rs763517010	489	R>S		No	ClinGen ExAC TOPMed gnomAD
CA338626444 rs1210579521	491	P>S		No	ClinGen gnomAD
CA625927 rs775996178	495	A>V		No	ClinGen ExAC gnomAD
rs142369162 CA625926	496	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA18332611 rs147665966	496	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA625925 rs147665966	496	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338626331 rs1464997057	500	S>C		No	ClinGen TOPMed
rs1311925547 CA338626307	502	V>A		No	ClinGen gnomAD
rs772890990 CA625924	503	C>R		No	ClinGen ExAC TOPMed gnomAD
rs368323780 CA625923	505	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA625922 rs372643435	505	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338626242 rs372643435	505	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392282430 CA338626177	507	P>L		No	ClinGen gnomAD
rs1569707965 CA338626136	509	T>P		No	ClinGen Ensembl
CA625919 rs749315112	510	S>Y		No	ClinGen ExAC gnomAD
CA338626026 rs1569707919	511	F>S		No	ClinGen Ensembl
rs780268726 CA625918	512	L>V		No	ClinGen ExAC TOPMed gnomAD
CA338625979 rs1569707900	513	I>T		No	ClinGen Ensembl
rs1363196906 CA338625854	518	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	518	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756315764 CA625917	520	T>I		No	ClinGen ExAC gnomAD
rs1569707843 CA338625787	520	T>P		No	ClinGen Ensembl
CA625916 rs746060935	521	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746060935 CA18332566	521	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1266905422 CA338625761	521	R>H		No	ClinGen gnomAD
rs937969285 CA18332563	522	L>F		No	ClinGen TOPMed gnomAD
rs757511757 CA625914	523	K>Q		No	ClinGen ExAC gnomAD
CA338625591 rs1203828705	526	V>M		No	ClinGen gnomAD
CA625911 rs758813762	527	E>A		No	ClinGen ExAC TOPMed gnomAD
CA338625552 rs758813762	527	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1275906028 CA338625563	527	E>K		No	ClinGen gnomAD
rs775450873 CA625884	528	N>D		No	ClinGen ExAC gnomAD
rs769785661 CA625883	529	I>V		No	ClinGen ExAC TOPMed gnomAD
CA625882 rs759611521	532	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA18332469 rs867650295	532	R>W		No	ClinGen TOPMed gnomAD
rs1408539823 CA338625296	533	T>I		No	ClinGen Ensembl
rs776834979 CA625881	534	A>V		No	ClinGen ExAC gnomAD
CA625880 rs771088193	535	Q>R		No	ClinGen ExAC gnomAD
rs575397508 CA625879	536	G>S		No	ClinGen ExAC gnomAD
rs772204026 CA338625201	538	E>A		No	ClinGen ExAC gnomAD
rs772204026 CA625877	538	E>V		No	ClinGen ExAC gnomAD
rs755473636 CA625874	539	D>G		No	ClinGen ExAC TOPMed gnomAD
rs779256096 CA625875	539	D>H		No	ClinGen ExAC gnomAD
CA18332435 rs779256096	539	D>N		No	ClinGen ExAC gnomAD
rs1454434559 CA338625150	540	E>K		No	ClinGen gnomAD
CA338625107 rs1557539959	541	D>E		No	ClinGen Ensembl
CA338625131 rs1272836034	541	D>N		No	ClinGen TOPMed
CA338625138 rs1272836034	541	D>Y		No	ClinGen TOPMed
CA625872 rs780545508	542	M>V		No	ClinGen ExAC
CA338625024 rs1419779202	545	K>E		No	ClinGen gnomAD
CA338624979 rs1226949396	548	N>D		No	ClinGen TOPMed
rs183101843 CA625871	548	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA625870 rs751065816	549	A>V		No	ClinGen ExAC gnomAD
CA625867 rs752533882	551	K>E		No	ClinGen ExAC TOPMed gnomAD
CA625868 rs752533882	551	K>Q		No	ClinGen ExAC TOPMed gnomAD
COSM324748 rs900792785 CA18332423	551	K>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1569706509 CA338624717	554	V>G		No	ClinGen Ensembl
rs749620959 CA625836	556	E>K		No	ClinGen ExAC gnomAD
rs369022692 CA625835	557	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770272660 CA625834	557	C>Y		No	ClinGen ExAC gnomAD
rs746417210 CA625833	558	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625832 rs777312840	559	A>D		No	ClinGen ExAC gnomAD
CA338624608 rs1345159036	559	A>T		No	ClinGen gnomAD
CA338624602 rs777312840	559	A>V		No	ClinGen ExAC gnomAD
rs1455726494 CA338624590	560	S>N		No	ClinGen gnomAD
CA625831 rs758017935	561	V>I		No	ClinGen ExAC gnomAD
rs1158927806 CA338624546	562	Q>R		No	ClinGen gnomAD
CA338624478 rs1415574462	566	R>G		No	ClinGen gnomAD
rs1429359528 CA338624460	568	E>K		No	ClinGen gnomAD
CA338624458 rs1429359528	568	E>Q		No	ClinGen gnomAD
rs747688533 CA625830	571	I>F		No	ClinGen ExAC gnomAD
rs1327638694 CA338624364	572	H>Q		No	ClinGen TOPMed
rs1479251119 CA338624338	574	S>I		No	ClinGen gnomAD
CA338624335 rs1479251119	574	S>N		No	ClinGen gnomAD
rs1267809671 CA338624250	577	I>T		No	ClinGen gnomAD
rs778658434 CA625829	578	H>R		No	ClinGen ExAC TOPMed gnomAD
CA625828 rs754690428	579	F>S		No	ClinGen ExAC gnomAD
rs1444949962 CA338623983	584	F>L		No	ClinGen gnomAD
CA18332060 rs867095629	585	P>L		No	ClinGen gnomAD
CA338623774 rs1460830910	588	S>F		No	ClinGen gnomAD
TCGA novel	588	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197701833 CA338623714	590	A>D		No	ClinGen gnomAD
rs750264972 CA625805	591	R>C		No	ClinGen ExAC TOPMed gnomAD
CA625804 COSM1335921 rs781061684	591	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338623675 rs781061684	591	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750264972 CA18332052	591	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1569705665 CA338623593	594	V>G		No	ClinGen Ensembl
rs1361990987 CA338623602	594	V>I		No	ClinGen gnomAD
CA625802 rs751574270	595	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM898893 rs757203915 CA625803	595	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1307079918 CA338623520	597	G>A		No	ClinGen TOPMed gnomAD
CA338623530 rs1378342607	597	G>R		No	ClinGen gnomAD
CA625801 rs372117226	598	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA338623253 rs1367149984	607	A>S		No	ClinGen gnomAD
rs1443933842 CA338623227	608	A>T		No	ClinGen gnomAD
rs765523211 CA625798	608	A>V		No	ClinGen ExAC gnomAD
CA338623186 rs1183925105	609	P>L		No	ClinGen gnomAD
CA338623151 rs1186796418	610	P>L		No	ClinGen gnomAD
rs528642958 CA625797	610	P>S		No	ClinGen ExAC gnomAD
rs1249950739 CA338623124	612	K>M		No	ClinGen gnomAD
CA18332011 rs1037712322	614	K>*		No	ClinGen TOPMed gnomAD
TCGA novel	615	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766858465 CA18332009	615	L>R		No	ClinGen Ensembl
rs771497780 CA625795	617	S>I		No	ClinGen ExAC gnomAD
rs771497780 CA18332007	617	S>N		No	ClinGen ExAC gnomAD
rs1274979318 CA338622981	618	K>T		No	ClinGen TOPMed
rs1222300710 CA338622961	620	V>F		No	ClinGen gnomAD
rs1222300710 CA338622963	620	V>I		No	ClinGen gnomAD
CA625793 rs143878152	621	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143878152 CA338622951	621	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs761329748 CA625794	621	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs761329748 CA338622957	621	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs768101624 CA625792	622	L>F		No	ClinGen ExAC gnomAD
rs1333434451 CA338622922	623	H>Y		No	ClinGen gnomAD
rs1332694261 CA338622830	627	D>E		No	ClinGen TOPMed
rs1437137734 CA338622838	627	D>N		No	ClinGen TOPMed
rs772920487 CA18331976	628	C>Y		No	ClinGen TOPMed gnomAD
rs748942395 CA338622766	631	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1170769820 CA338622764	631	L>P		No	ClinGen TOPMed
rs748942395 CA625791	631	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM1599966 rs61749279 CA625789 RCV000968972	633	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779533127 CA625790	633	R>W		No	ClinGen ExAC TOPMed gnomAD
CA625787 rs376152196	634	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs150370119 CA625788	634	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	635	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338622714 rs1569705202	635	K>E		No	ClinGen Ensembl
CA625786 rs757185383	635	K>N		No	ClinGen ExAC gnomAD
CA625785 rs751559345	636	E>Q		No	ClinGen ExAC gnomAD
CA625762 rs376256089	642	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA338621995 rs747791645	644	V>F		No	ClinGen ExAC TOPMed gnomAD
CA625759 rs747791645	644	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1336215636 CA338621956	647	K>T		No	ClinGen gnomAD
TCGA novel	650	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625757 rs200330080	654	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200330080 CA625756	654	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138818876 CA625758	654	R>W		No	ClinGen ESP ExAC gnomAD
CA338621801 rs1386285970	657	S>I		No	ClinGen gnomAD
TCGA novel rs1386285970 CA338621814	657	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1553142741 CA338621752	660	L>P		No	ClinGen Ensembl
rs1185915557 CA338621738	661	Q>*		No	ClinGen gnomAD
CA338621735 rs1460410139	661	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA625755 rs201415943	662	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA625754 rs201415943	662	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776222703 CA338621656	665	G>R		No	ClinGen ExAC TOPMed
CA625751 rs776222703	665	G>S		No	ClinGen ExAC TOPMed
rs1569701179 CA338621615	667	V>A		No	ClinGen Ensembl
rs746745880 CA338621620	667	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746745880 CA625749	667	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773063320 CA625748	670	L>I		No	ClinGen ExAC gnomAD
CA625747 rs771897341	671	Q>*		No	ClinGen ExAC gnomAD
COSM3711196 rs142811188 CA338621439	674	H>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1380541745 CA338621431	675	G>R		No	ClinGen TOPMed gnomAD
rs778835248 CA625745	676	Q>*		No	ClinGen ExAC
CA338621364 rs1383689204	678	M>V		No	ClinGen TOPMed gnomAD
CA18329504 rs754450332	680	H>Y		No	ClinGen TOPMed gnomAD
rs1409636655 CA338621193	685	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1183515 rs746363837 CA625743	685	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1366560435 CA338621157 COSM1335920	686	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA18329495 rs750689438	687	R>P		No	ClinGen ExAC TOPMed gnomAD
CA625740 rs750689438	687	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA625741 rs756420038	687	R>W		No	ClinGen ExAC gnomAD
rs781670693 CA625739	688	T>M		No	ClinGen ExAC gnomAD
CA625717 rs753339154	690	S>R		No	ClinGen ExAC gnomAD
TCGA novel	691	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765929754 CA625716	694	R>*		No	ClinGen ExAC TOPMed gnomAD
CA625715 rs534426729	694	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs750130078 CA625713	695	W>*		No	ClinGen ExAC TOPMed gnomAD
CA625712 rs767107706	696	I>V		No	ClinGen ExAC gnomAD
rs761620921 CA625711	697	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1306386811 CA338620505	698	A>V		No	ClinGen TOPMed
TCGA novel	700	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	701	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424170743 CA338620386	702	S>F		No	ClinGen TOPMed gnomAD
rs200360405 CA625710	703	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA338620289 rs1394123515	705	Q>H		No	ClinGen TOPMed
rs1314760682 CA338620315	705	Q>K		No	ClinGen TOPMed
rs1240227109 CA338620232	707	D>G		No	ClinGen gnomAD
rs768649657 CA625709	710	V>A		No	ClinGen ExAC TOPMed
rs1208034213 CA338620168	710	V>I		No	ClinGen gnomAD
CA338620050 rs1265103778	712	S>N		No	ClinGen gnomAD
rs113595914 CA625705 CA625706	713	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA625704 rs770052418	714	G>W		No	ClinGen ExAC TOPMed gnomAD
CA338619950 rs146123988	716	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146123988 CA625703	716	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs748542461 CA625678	717	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs779344158 CA625677	718	P>A		No	ClinGen ExAC TOPMed gnomAD
CA18328219 rs779344158	718	P>T		No	ClinGen ExAC TOPMed gnomAD
CA338618422 rs1482221482	721	Q>L		No	ClinGen gnomAD
rs1223764279 CA338618400	723	V>I		No	ClinGen gnomAD
TCGA novel	724	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250894489 CA338618356	727	K>R		No	ClinGen TOPMed
CA338618346 rs1235096109	728	A>V		No	ClinGen TOPMed
rs780635236 CA625674	731	P>S		No	ClinGen ExAC gnomAD
CA625673 rs756924262	735	T>A		No	ClinGen ExAC gnomAD
rs751307706 CA625672	735	T>I		No	ClinGen ExAC gnomAD
CA338618124 rs1301840984	738	K>R		No	ClinGen TOPMed
rs1307160375 CA338618008	741	I>M		No	ClinGen gnomAD
CA625670 rs758230669	743	S>T		No	ClinGen ExAC TOPMed gnomAD
CA18328186 rs748570233	745	R>S		No	ClinGen Ensembl
rs1161349058 CA338617906	746	T>N		No	ClinGen gnomAD
CA338617891 rs1364428414	747	W>*		No	ClinGen gnomAD
rs148325785 CA338617893	747	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148325785 CA625668	747	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338617851 rs1161464294	749	S>G		No	ClinGen TOPMed gnomAD
rs542362149	750	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA18328016 rs376388390	751	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA625654 rs376388390	751	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA338617780 rs776756182	751	G>R		No	ClinGen ExAC TOPMed gnomAD
CA625666 rs776756182	751	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1177358926 CA338617602	752	W>C		No	ClinGen gnomAD
CA338617533 rs1481568982	755	G>A		No	ClinGen gnomAD
rs1376249900 CA338617527	756	V>I		No	ClinGen gnomAD
CA625653 rs777522798	757	R>C		No	ClinGen ExAC gnomAD
CA625652 rs368259205	757	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA625650 rs778628464	759	A>T		No	ClinGen ExAC gnomAD
CA625649 rs754919141	759	A>V		No	ClinGen ExAC gnomAD
rs753756450 CA625648	760	D>N		No	ClinGen ExAC gnomAD
CA338617332 rs1271863008	765	W>G		No	ClinGen TOPMed
rs1228392549 CA338617266	767	P>S		No	ClinGen gnomAD
CA338617240 rs1272847315	768	Q>*		No	ClinGen gnomAD
CA338617188 rs1428482726	770	Y>S		No	ClinGen TOPMed
rs760696752 CA625646	773	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1462788883 CA338617085	774	I>T		No	ClinGen TOPMed
rs1285678327 CA338617023	776	S>R		No	ClinGen gnomAD
rs916936856 CA18327997	777	L>H		No	ClinGen gnomAD
CA625645 rs375592178	778	S>G		No	ClinGen ESP ExAC gnomAD
CA625643 rs774766550	779	A>S		No	ClinGen ExAC gnomAD
rs774766550 CA625642	779	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768953810 CA625641	780	R>C		No	ClinGen ExAC TOPMed gnomAD
rs981512778 CA18327981	780	R>H		No	ClinGen TOPMed gnomAD
rs1475905973 CA338616930	781	L>R		No	ClinGen gnomAD
rs1423201425 CA338616925	782	R>*		No	ClinGen TOPMed gnomAD
rs1423201425 CA338616927	782	R>G		No	ClinGen TOPMed gnomAD
CA338616901 rs1569693760	783	N>T		No	ClinGen Ensembl
rs1330845085 CA338616881	784	L>F		No	ClinGen gnomAD
rs1375171009 CA338616876	784	L>P		No	ClinGen gnomAD
rs937107285 CA18327962	785	R>L		No	ClinGen TOPMed
rs937107285 CA338616866	785	R>Q		No	ClinGen TOPMed
CA625639 rs757658793	785	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338616820 rs1246882523	787	N>K		No	ClinGen TOPMed gnomAD
rs141643788 CA625638	787	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA625637 rs746448541 COSM898889	789	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA625636 rs562367221	789	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA625635 rs771834766	792	S>N		No	ClinGen ExAC TOPMed gnomAD
CA18327937 rs987455305	794	T>A		No	ClinGen gnomAD
CA625634 rs747850038	797	L>Q		No	ClinGen ExAC gnomAD
CA338616620 rs1307583558	798	G>A		No	ClinGen TOPMed
CA625633 rs778735681	798	G>W		No	ClinGen ExAC TOPMed gnomAD
rs913419397 CA18327923	800	A>T		No	ClinGen TOPMed gnomAD
CA18327921 COSM18229 rs771451144	801	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA338616551 rs989069381	802	V>L		No	ClinGen TOPMed gnomAD
CA18327916 rs989069381	802	V>M		No	ClinGen TOPMed gnomAD

No associated diseases with Q8IW93

4 regional properties for Q8IW93

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	376 - 560	IPR000219
domain	SH3 domain	715 - 776	IPR001452
domain	Pleckstrin homology domain	592 - 706	IPR001849
domain	Ephexin-like, PH domain	580 - 706	IPR047270

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

2 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
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.

4 GO annotations of biological process

Name	Definition
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
Wnt signaling pathway, planar cell polarity pathway	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

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
Q5VV41	ARHGEF16	Rho guanine nucleotide exchange factor 16	Homo sapiens (Human)	PR
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
Q3U5C8	Arhgef16	Rho guanine nucleotide exchange factor 16	Mus musculus (Mouse)	PR
Q5FWH6	Arhgef15	Rho guanine nucleotide exchange factor 15	Mus musculus (Mouse)	SS
Q8BWA8	Arhgef19	Rho guanine nucleotide exchange factor 19	Mus musculus (Mouse)	PR
Q5BKC9	Ngef	Ephexin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MDCGPPATLQ	PHLTGPPGTA	HHPVAVCQQE	SLSFAELPAL	KPPSPVCLDL	FPVAPEELRA
70	80	90	100	110	120
PGSRWSLGTP	APLQGLLWPL	SPGGSDTEIT	SGGMRPSRAG	SWPHCPGAQP	PALEGPWSPR
130	140	150	160	170	180
HTQPQRRASH	GSEKKSAWRK	MRVYQREEVP	GCPEAHAVFL	EPGQVVQEQA	LSTEEPRVEL
190	200	210	220	230	240
SGSTRVSLEG	PERRRFSASE	LMTRLHSSLR	LGRNSAARAL	ISGSGTGAAR	EGKASGMEAR
250	260	270	280	290	300
SVEMSGDRVS	RPAPGDSREG	DWSEPRLDTQ	EEPPLGSRST	NERRQSRFLL	NSVLYQEYSD
310	320	330	340	350	360
VASARELRRQ	QREEEGPGDE	AEGAEEGPGP	PRANLSPSSS	FRAQRSARGS	TFSLWQDIPD
370	380	390	400	410	420
VRGSGVLATL	SLRDCKLQEA	KFELITSEAS	YIHSLSVAVG	HFLGSAELSE	CLGAQDKQWL
430	440	450	460	470	480
FSKLPEVKST	SERFLQDLEQ	RLEADVLRFS	VCDVVLDHCP	AFRRVYLPYV	TNQAYQERTY
490	500	510	520	530	540
QRLLLENPRF	PGILARLEES	PVCQRLPLTS	FLILPFQRIT	RLKMLVENIL	KRTAQGSEDE
550	560	570	580	590	600
DMATKAFNAL	KELVQECNAS	VQSMKRTEEL	IHLSKKIHFE	GKIFPLISQA	RWLVRHGELV
610	620	630	640	650	660
ELAPLPAAPP	AKLKLSSKAV	YLHLFNDCLL	LSRRKELGKF	AVFVHAKMAE	LQVRDLSLKL
670	680	690	700	710	720
QGIPGHVFLL	QLLHGQHMKH	QFLLRARTES	EKQRWISALC	PSSPQEDKEV	ISEGEDCPQV
730	740	750	760	770	780
QCVRTYKALH	PDELTLEKTD	ILSVRTWTSD	GWLEGVRLAD	GEKGWVPQAY	VEEISSLSAR
790	800
LRNLRENKRV	TSATSKLGEA	PV