AiPD: Autoinhibited Protein Database

P85298

Gene name	ARHGAP8
Protein name	Rho GTPase-activating protein 8
Names	Rho-type GTPase-activating protein 8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23779
EC number
Protein Class

Descriptions

Rho GTPase-activating protein 1 (p50RhoGAP) comprises an N-terminal BCH domain and a C-terminal GAP domain separated by a proline-rich region. p50RhoGAP contains a non-canonical RhoA-binding motif in its BCH domain and is associated with GAP-mediated cell rounding. In the autoinhibited state, the GAP catalytic residue is being occluded and incapable of RhoA inactivation, and it only becomes accessible upon the release of autoinhibition of GAP from the BCH domain. The lipid binding to BCH domain may initiate the transition for the release of GAP domain from the inactive state to the active state of p50RhoGAP. This leads to the activation of the GAP domain of p50RhoGAP, resulting in the GAP-mediated GTPase inactivation of RhoA.

Autoinhibitory domains (AIDs)

13-199 (Lipid binding domain, BCH domain) SS

Target domain	226-412 (RhoGAP domain)
Relief mechanism	Ligand binding
Assay

AID

13-199 (Lipid binding domain, BCH domain)

Target domain

226-412 (RhoGAP domain)

Relief mechanism

Ligand binding (Lipid binding to BCH domain)

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

Chichili VPR et al. (2021) "Structural basis for p50RhoGAP BCH domain-mediated regulation of Rho inactivation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Moskwa P et al. (2005) "Autoinhibition of p50 Rho GTPase-activating protein (GAP) is released by prenylated small GTPases", The Journal of biological chemistry, 280, 6716-20

Autoinhibited structure

Activated structure

1 structures for P85298

Entry ID	Method	Resolution	Chain	Position	Source
AF-P85298-F1	Predicted				AlphaFoldDB

723 variants for P85298

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs758772844 CA10281344	4	Q>E		No	ClinGen ExAC gnomAD
rs780594712 CA10281345	4	Q>R		No	ClinGen ExAC gnomAD
rs1280830680 CA411866236	6	P>T		No	ClinGen TOPMed gnomAD
rs201858623 CA10281347	7	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324939335 rs868473920	8	L>R		No	ClinGen Ensembl
rs199810949 CA10281349	10	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201529692 CA10281352	11	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10281351 rs201529692	11	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA411866334 rs1438742566	13	P>L		No	ClinGen gnomAD
CA411866326 rs1173070652	13	P>S		No	ClinGen TOPMed
rs761488993 CA10281358	16	D>A		No	ClinGen ExAC gnomAD
rs761488993 CA411866372	16	D>G		No	ClinGen ExAC gnomAD
rs187115817 CA10281357	16	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10281356 rs187115817	16	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10281360 rs200833725	17	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA411866392 rs1236214515	18	A>G		No	ClinGen TOPMed
CA411866386 rs1374720783	18	A>T		No	ClinGen gnomAD
rs200994103 CA10281361	20	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10281363 rs148741292	21	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411866461 rs1340048219	24	Q>*		No	ClinGen TOPMed gnomAD
CA411866472 rs1270358251	24	Q>H		No	ClinGen gnomAD
CA411866466 rs1197455571	24	Q>P		No	ClinGen gnomAD
CA10281366 rs748242254	26	A>V		No	ClinGen ExAC gnomAD
CA411866498 rs769924204	27	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10281367 rs769924204	27	G>W		No	ClinGen ExAC TOPMed gnomAD
rs756156013 CA10281385	28	D>G		No	ClinGen ExAC gnomAD
rs753273314 CA10281384	28	D>N		No	ClinGen ExAC gnomAD
rs777764946 CA10281386	29	D>N		No	ClinGen ExAC gnomAD
rs749479656 CA10281387	29	D>V		No	ClinGen ExAC gnomAD
CA10281388 rs569752689	30	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411867692 rs569752689	30	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324956946 rs866890566	30	R>H		No	ClinGen TOPMed gnomAD
CA411867691 rs569752689	30	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs949078534 CA324956954	31	F>V		No	ClinGen TOPMed
rs1319402741 CA411867713	32	G>A		No	ClinGen gnomAD
rs1362741228 CA411867710	32	G>R		No	ClinGen TOPMed
CA10281389 rs779829700	34	R>C		No	ClinGen ExAC TOPMed gnomAD
CA411867725 rs779829700	34	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10281390 rs368399115	34	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201465628 CA10281392	35	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA411867736 rs1486400574	35	V>F		No	ClinGen gnomAD
rs201465628 CA411867738	35	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA411867754 rs1261451380	37	T>A		No	ClinGen gnomAD
CA10281393 rs748132766	37	T>M		No	ClinGen ExAC TOPMed
CA411867776 rs1371210026	39	S>N		No	ClinGen TOPMed
CA411867786 rs1169138661	40	C>R		No	ClinGen TOPMed
CA10281397 rs181719747	42	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201611417 CA10281396	42	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774113480 CA10281398	43	M>L		No	ClinGen ExAC gnomAD
CA411867834 rs1602197445	44	P>A		No	ClinGen Ensembl
rs368156067 CA10281400	44	P>L		No	ClinGen ESP ExAC gnomAD
rs368156067 CA10281399	44	P>Q		No	ClinGen ESP ExAC gnomAD
CA411867840 rs1296171325	45	P>A		No	ClinGen TOPMed gnomAD
CA10281402 rs371309902	45	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281405 rs757441997 COSM229398	48	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA411867890 rs1318403801	49	L>M		No	ClinGen gnomAD
CA10281407 rs746159688	50	D>E		No	ClinGen ExAC gnomAD
rs144157668 CA411867922	51	H>Q		No	ClinGen ESP gnomAD
rs878984382 COSM3800250 CA324957099	51	H>Y	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs754784555 CA10281408	52	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs570715679 CA10281410	53	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41278883 CA10281409	53	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411867964 rs769647517	56	E>A		No	ClinGen ExAC TOPMed gnomAD
rs769647517 CA10281412	56	E>G		No	ClinGen ExAC TOPMed gnomAD
rs777570790 CA10281432	58	L>*		No	ClinGen ExAC gnomAD
CA411868034 rs1212835151	59	K>R		No	ClinGen TOPMed
CA411868047 rs1463543522	61	T>A		No	ClinGen gnomAD
rs1221603195 CA411868063	63	D>E		No	ClinGen TOPMed
rs778417488 CA10281435	63	D>N		No	ClinGen ExAC gnomAD
rs1349289507 CA411868076	65	Y>C		No	ClinGen TOPMed
COSM1034972 CA10281437 rs771718778	66	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA411868086 rs1296852219	67	E>Q		No	ClinGen gnomAD
CA411868099 rs565633378 CA10281439	68	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324963180 rs959478163	69	D>N		No	ClinGen TOPMed gnomAD
rs1326063145 CA411868108	70	Y>H		No	ClinGen TOPMed
CA411868116 rs1602205732	71	T>P		No	ClinGen Ensembl
rs1159316355 CA411868124	72	I>T		No	ClinGen TOPMed
CA324963200 rs991091335	72	I>V		No	ClinGen TOPMed gnomAD
rs148849830 CA10281442	73	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146945151 CA10281444	74	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA411868136 rs146945151	74	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218124404 CA411868151	76	H>R		No	ClinGen TOPMed
CA10281446 rs766698640	76	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10281447 rs751900302	77	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs538343031 CA10281449	78	G>R		No	ClinGen ExAC TOPMed gnomAD
rs538343031 CA411868164	78	G>W		No	ClinGen ExAC TOPMed gnomAD
CA324963315 rs878994473	80	N>K		No	ClinGen Ensembl
CA411868175 rs1348517890	80	N>S		No	ClinGen TOPMed gnomAD
CA10281450 rs141930874	80	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10281451 rs757251755	81	S>I		No	ClinGen ExAC TOPMed
CA411868186 rs6007304	82	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411868188 rs116110380	82	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116110380 CA10281453	82	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10281452 rs6007304	82	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1049258921 CA324963342	83	N>H		No	ClinGen TOPMed
CA411868234 rs1230253319	89	W>C		No	ClinGen gnomAD
rs1287908776 CA411868248	91	Q>H		No	ClinGen gnomAD
CA411868251 rs1450850047	92	S>G		No	ClinGen gnomAD
CA10281454 rs542654729	92	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA324963370 rs888639412	93	A>T		No	ClinGen TOPMed gnomAD
rs768880228 CA10281457	94	Y>C		No	ClinGen ExAC gnomAD
rs1418025438 CA411868262	94	Y>N		No	ClinGen gnomAD
CA10281458 rs777071862	95	K>T		No	ClinGen ExAC
CA411868291 rs748559516 CA411868290	97	F>L		No	ClinGen ExAC TOPMed gnomAD
rs148162583 CA10281460	98	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411868292 rs148162583 COSM135928	98	D>N	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA411868330 rs1477497537	101	D>V		No	ClinGen gnomAD
rs1044100251 CA324964271	102	G>R		No	ClinGen TOPMed gnomAD
CA411868333 rs1044100251	102	G>W		No	ClinGen TOPMed gnomAD
CA324964277 rs1046611735	103	D>N		No	ClinGen Ensembl
rs1241372254 CA411868352	105	T>A		No	ClinGen TOPMed
CA324964281 rs539037467	106	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1296209164 CA411868368	107	W>*		No	ClinGen gnomAD
rs1401826967 CA411868367	107	W>G		No	ClinGen gnomAD
rs903977434 CA324964296	109	R>M		No	ClinGen TOPMed
rs906203439 CA324964304	109	R>S		No	ClinGen Ensembl
rs758354549 CA10281504	110	L>R		No	ClinGen ExAC TOPMed gnomAD
CA10281505 rs765762975	112	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765762975 CA411868411	112	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1215060728 CA411868447	116	L>V		No	ClinGen gnomAD
CA10281508 rs780882910	117	K>N		No	ClinGen ExAC gnomAD
rs1360136767 CA411868462	117	K>T		No	ClinGen TOPMed
CA411868472 rs1354849343	118	R>*		No	ClinGen gnomAD
rs994703778 CA324964330	118	R>P		No	ClinGen TOPMed gnomAD
rs994703778 CA411868474	118	R>Q		No	ClinGen TOPMed gnomAD
CA411868515 rs1569156155	121	H>Q		No	ClinGen Ensembl
rs368664075 CA324964352	123	S>G		No	ClinGen TOPMed gnomAD
rs368664075 CA411868529	123	S>R		No	ClinGen TOPMed gnomAD
CA324964357 rs1028943894	124	L>F		No	ClinGen TOPMed gnomAD
CA324964369 rs1029263097	126	K>Q		No	ClinGen TOPMed
rs1187087068 CA411868584	127	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	128	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380696326 CA411868596	128	W>L		No	ClinGen gnomAD
rs1487655139 CA411868636	131	R>G		No	ClinGen TOPMed
rs1237524240 CA411869096	131	R>S		No	ClinGen gnomAD
CA411869101 rs1373468634	132	Y>C		No	ClinGen gnomAD
rs1473615382 CA411869098	132	Y>H		No	ClinGen gnomAD
rs897960941 CA324971369	133	K>E		No	ClinGen Ensembl
CA10281557 rs201867796	136	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536804543 CA411869143	138	A>P		No	ClinGen TOPMed gnomAD
rs536804543 CA324971392	138	A>T		No	ClinGen TOPMed gnomAD
CA411869145 COSM142976 rs1363058447	138	A>V	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs562703546 CA10281560 COSM188735	141	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs780037118 CA411869166	142	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10281561 rs780037118	142	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1257826996 CA411869175	143	H>R		No	ClinGen gnomAD
CA10281563 rs755107395	147	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1380414484 CA411869212	148	I>M		No	ClinGen TOPMed
CA411869210 rs1311157169	148	I>T		No	ClinGen gnomAD
CA411869215 rs1569158965	149	K>Q		No	ClinGen Ensembl
CA10281564 rs781386127	150	V>F		No	ClinGen ExAC gnomAD
CA411869234 rs1424084144	152	W>*		No	ClinGen TOPMed
rs1278790196 CA411869245	153	N>T		No	ClinGen gnomAD
CA324971460 rs887468775	154	I>V		No	ClinGen gnomAD
CA324971482 rs1054349298	157	P>L		No	ClinGen TOPMed gnomAD
CA411869275 rs1179698919	158	L>F		No	ClinGen gnomAD
CA411869286 rs1248748770	159	I>M		No	ClinGen TOPMed
rs141967957 CA10281570	160	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs916501324 CA324984191	161	H>L		No	ClinGen TOPMed gnomAD
CA10281600 rs760068940	161	H>N		No	ClinGen ExAC gnomAD
rs767519068 CA10281601	161	H>Q		No	ClinGen ExAC gnomAD
rs916501324 CA411869712	161	H>R		No	ClinGen TOPMed gnomAD
rs760068940 CA411869710	161	H>Y		No	ClinGen ExAC gnomAD
rs752732756 CA10281602	162	K>N		No	ClinGen ExAC gnomAD
CA324984192 rs1030189901	162	K>Q		No	ClinGen TOPMed
rs1478153399 CA411869732	164	G>R		No	ClinGen gnomAD
rs756279477 CA10281603	165	K>R		No	ClinGen ExAC gnomAD
CA411869755 rs1461653718	167	V>A		No	ClinGen gnomAD
CA10281604 rs777857002	167	V>I		No	ClinGen ExAC gnomAD
CA411869758 rs1392597814	168	I>V		No	ClinGen TOPMed gnomAD
rs201467717 CA10281606	169	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs780014977 CA10281608	170	F>L		No	ClinGen ExAC gnomAD
CA411869777 CA10281609 rs746900149	170	F>L		No	ClinGen ExAC TOPMed gnomAD
rs370528341 CA10281611	171	N>K		No	ClinGen ESP ExAC gnomAD
rs768715330 COSM3708315 CA10281610	171	N>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10281612 rs16992915 VAR_049138	172	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10281613 rs769411423	174	S>R		No	ClinGen ExAC TOPMed gnomAD
rs142047597 CA10281614	177	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281617 rs371746347	178	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371746347 CA10281616	178	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA324984273 rs897201263	179	H>R		No	ClinGen Ensembl
rs762332134 CA324984285	180	L>F		No	ClinGen TOPMed gnomAD
CA10281620 rs767999678 CA411869856	182	Y>*		No	ClinGen ExAC gnomAD
CA10281625 CA10281623 rs753961460	183	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10281622 rs115109750	183	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10281621 rs115109750	183	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1660616 rs1422468227 CA411869871	185	L>Q	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1378750615 CA411869874	186	V>I		No	ClinGen TOPMed
CA411869889 rs1569163145	188	P>S		No	ClinGen Ensembl
rs780986741 CA10281628	190	E>D		No	ClinGen ExAC gnomAD
rs55849456 CA10281627	190	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1383604244 CA10281630	193	R>L		No	ClinGen TOPMed gnomAD
rs1383604244 CA10281632	193	R>P		No	ClinGen TOPMed gnomAD
rs1383604244 CA10281631	193	R>Q		No	ClinGen TOPMed gnomAD
CA411869919 rs748155892	193	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10281669 rs144191237	194	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753817080 CA10281670	195	D>E		No	ClinGen ExAC TOPMed gnomAD
CA411869939 rs1444748508	195	D>H		No	ClinGen TOPMed gnomAD
CA411869938 rs1444748508	195	D>N		No	ClinGen TOPMed gnomAD
rs1444748508 CA411869937	195	D>Y		No	ClinGen TOPMed gnomAD
rs756742080 CA10281671	197	K>T		No	ClinGen ExAC gnomAD
rs1602230004 CA411869963	198	L>P		No	ClinGen Ensembl
rs778419615 CA10281672	200	S>G		No	ClinGen ExAC TOPMed gnomAD
CA324987195 rs949927755	200	S>R		No	ClinGen Ensembl
CA411869980 rs1285335879	201	L>V		No	ClinGen gnomAD
rs758070305 CA10281674	203	E>K		No	ClinGen ExAC TOPMed gnomAD
rs533325275 CA10281676	204	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA10281677 rs549994660	204	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs117749664 CA10281679	205	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10281678 rs369660678	205	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281680 rs146040774	206	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000974158 CA10281682 rs74393756	207	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA324987223 rs74393756	207	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1036392504 CA324987241	208	P>S		No	ClinGen Ensembl
CA411870020 rs1421264749	209	P>A		No	ClinGen gnomAD
CA411870030 rs375415792	210	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281684 rs375415792	210	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281685 rs369911894	211	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs763930138 CA10281686	211	K>N		No	ClinGen ExAC gnomAD
rs753730992 CA10281687	212	T>R		No	ClinGen ExAC gnomAD
CA324987268 rs953896160	213	P>S		No	ClinGen TOPMed
rs376772948 CA10281689	214	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376772948 CA10281690	214	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281692 rs565896716	215	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370649393 CA324987301	215	P>S		No	ClinGen ESP
COSM132753 CA10281694 rs755347776	216	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA411870055 rs1322026918	216	R>W		No	ClinGen gnomAD
rs748623441 CA10281696	217	P>L		No	ClinGen ExAC gnomAD
CA10281697 rs770428449	218	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411870087 rs1256980046	222	Q>*		No	ClinGen TOPMed
rs1434848526 CA411870104	224	F>V		No	ClinGen gnomAD
CA411870113 rs1419257830	225	G>D		No	ClinGen gnomAD
rs140257857 CA10281701	226	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281702 rs759702968	227	S>G		No	ClinGen ExAC gnomAD
rs768402468 CA10281703	229	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs776418093 CA10281704	229	Q>L		No	ClinGen ExAC gnomAD
CA411872927 rs1158131800	232	K>R		No	ClinGen gnomAD
rs1471086264 CA411872953	234	K>E		No	ClinGen gnomAD
rs540915857 CA10281738 COSM1222225	238	E>K	large_intestine skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA10281739 rs540915857	238	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145150063 CA10281740	239	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs147582478 CA10281742	240	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411873085 rs1330616015	240	I>S		No	ClinGen gnomAD
CA411873100 rs1350495750	241	P>H		No	ClinGen TOPMed
CA411873094 rs1441390124	241	P>T		No	ClinGen gnomAD
CA10281744 rs772909625	242	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10281746 rs141993522	242	P>H		No	ClinGen ESP TOPMed gnomAD
rs772909625 CA10281743	242	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772909625 CA10281745	242	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1177410798 CA411873140	244	L>R		No	ClinGen TOPMed gnomAD
CA411873192 rs1602256560	247	T>A		No	ClinGen Ensembl
CA10281749 rs759087263	247	T>I		No	ClinGen ExAC TOPMed gnomAD
rs145431642 CA411873244	249	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145431642 CA10281750	249	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145431642 CA10281751	249	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10281755 rs200724454	250	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325000649 rs986321587	250	Y>C		No	ClinGen gnomAD
CA10281758 rs750964191	252	R>T		No	ClinGen ExAC gnomAD
rs201724810 CA10281760	253	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201724810 CA10281759	253	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747190851 CA10281761	254	K>N		No	ClinGen ExAC gnomAD
rs143372796 CA10281789	255	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325765998 CA411873348	255	G>S		No	ClinGen TOPMed gnomAD
CA10281788 rs143372796	255	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761547323 CA10281791	256	L>V		No	ClinGen ExAC gnomAD
rs770011968 CA10281792	257	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148354622 CA10281793	257	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281796 rs375076440	259	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411865423 rs1369611718	261	L>P		No	ClinGen TOPMed
rs767658837 CA10281798 CA10281799	262	F>L		No	ClinGen ExAC gnomAD
CA411865429 rs1601517206	262	F>S		No	ClinGen Ensembl
rs370096078 CA10281803	263	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370096078 CA10281802	263	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs536047415 CA10281800	263	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10281804 rs780105309	265	S>F		No	ClinGen ExAC gnomAD
CA10281806 rs754393672	266	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1472097312 CA411865449	266	A>V		No	ClinGen TOPMed gnomAD
rs780782833 CA10281807	267	S>N		No	ClinGen ExAC gnomAD
CA10281809 rs769447573	268	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10281810 rs769447573	268	V>M		No	ClinGen ExAC TOPMed gnomAD
CA324932287 rs995590409	269	Q>*		No	ClinGen TOPMed
CA10281811 rs145723385	269	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411865465 rs1385367199	269	Q>R		No	ClinGen gnomAD
CA10281813 rs200649519	271	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281814 rs377101168	272	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281816 rs377101168	272	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281817 rs138302998	272	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138302998 CA10281818	272	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369100112 CA324932298	273	E>K		No	ClinGen ESP TOPMed gnomAD
CA411865495 rs1380105315	275	Q>E		No	ClinGen TOPMed
CA411865494 rs1380105315	275	Q>K		No	ClinGen TOPMed
rs754157053 CA10281821	276	R>S		No	ClinGen ExAC gnomAD
CA10281822 rs758240894	277	L>P		No	ClinGen ExAC gnomAD
rs200597792 CA324932304	278	Y>C		No	ClinGen Ensembl
rs1470007980 CA411865525	279	N>K		No	ClinGen gnomAD
rs553490910 CA10281824	279	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411865528 rs1601517349	280	Q>*		No	ClinGen Ensembl
rs754945300 CA10281825	281	G>W		No	ClinGen ExAC gnomAD
CA10281859 rs373146785	283	P>A		No	ClinGen ESP ExAC gnomAD
CA10281860 rs759342725	283	P>L		No	ClinGen ExAC gnomAD
CA10281858 rs373146785	283	P>S		No	ClinGen ESP ExAC gnomAD
CA411865559 rs373146785	283	P>T		No	ClinGen ESP ExAC gnomAD
rs376362649 CA10281863	284	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs112956019 CA10281862	284	V>M		No	ClinGen ExAC TOPMed gnomAD
rs763538272 CA411865574	286	F>I		No	ClinGen ExAC TOPMed gnomAD
CA10281864 rs763538272	286	F>V		No	ClinGen ExAC TOPMed gnomAD
CA10281868 rs750095928	288	D>G		No	ClinGen ExAC gnomAD
CA10281867 COSM3736808 rs756829908	288	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10281866 rs756829908	288	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA411865598 rs1601518455	289	Y>F		No	ClinGen Ensembl
rs901671244 CA324932630	289	Y>H		No	ClinGen Ensembl
rs150614994 CA10281871	290	G>R		No	ClinGen ExAC TOPMed gnomAD
rs150614994 COSM326255 CA10281872	290	G>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1289605882 CA411865608 COSM1287413	291	D>G	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10281873 rs769297675	291	D>N		No	ClinGen ExAC gnomAD
rs781778624 CA10281874	292	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10281875 rs748232824	293	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA10281877 rs773460570	294	I>V		No	ClinGen ExAC gnomAD
CA10281878 rs763116045	295	P>H		No	ClinGen ExAC gnomAD
rs764016250 CA10281883	297	V>A		No	ClinGen ExAC gnomAD
rs775279290 CA10281882	297	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775279290 CA10281881	297	V>M		No	ClinGen ExAC TOPMed gnomAD
rs201957969 CA10281884	298	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA411865712 rs1484670691	300	K>N		No	ClinGen gnomAD
rs1601518555 CA411865713	301	T>P		No	ClinGen Ensembl
rs1281158761 CA411865739	302	F>L		No	ClinGen TOPMed
rs1389930062 CA411865728	302	F>L		No	ClinGen gnomAD
rs1434224977 CA411865746	303	L>Q		No	ClinGen TOPMed
CA411865742 rs1445781513	303	L>V		No	ClinGen gnomAD
rs549516595 COSM580412 CA10281886	304	R>*	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs549516595 CA411865752	304	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373604411 CA411865758	304	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373604411 CA10281888	304	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10281889 rs766788904	305	E>Q		No	ClinGen ExAC gnomAD
CA10281891 rs751957378	308	Q>E		No	ClinGen ExAC gnomAD
rs1264328406 CA411865828	308	Q>P		No	ClinGen gnomAD
CA10281892 rs755459670	309	P>L		No	ClinGen ExAC gnomAD
rs377459926 CA324932653	311	L>V		No	ClinGen ExAC gnomAD
rs777720073 CA10281896	313	F>L		No	ClinGen ExAC gnomAD
rs139669165 CA10281898	315	A>S		No	ClinGen ESP ExAC gnomAD
rs139669165 CA10281899	315	A>T		No	ClinGen ESP ExAC gnomAD
rs774624971 CA10281900	316	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs149327155 CA10281903	317	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149327155 CA10281902	317	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314823491 CA411866032	318	Q>*		No	ClinGen gnomAD
rs1247804423 CA411866071	319	I>F		No	ClinGen gnomAD
rs200017589 CA324932661	319	I>T		No	ClinGen Ensembl
rs528998726 CA10281904	320	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10281906 rs772607555	321	G>R		No	ClinGen ExAC gnomAD
rs772299067 CA10282020	324	C>S		No	ClinGen ExAC TOPMed gnomAD
CA10282021 rs775812374	324	C>W		No	ClinGen ExAC gnomAD
CA10282022 rs760980202	325	V>G		No	ClinGen ExAC gnomAD
rs145217268 CA324942453	326	E>*		No	ClinGen ESP TOPMed gnomAD
rs140395831 CA10282025	327	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411867673 rs1257538361	327	S>I		No	ClinGen TOPMed gnomAD
CA411867671 rs1257538361	327	S>N		No	ClinGen TOPMed gnomAD
CA10282024 rs140395831 RCV000918826	327	S>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411867677 rs570797756 CA10282026	327	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1199750565 CA411867682	328	S>G		No	ClinGen gnomAD
rs9626584 CA324942482	328	S>N		No	ClinGen Ensembl
rs144257107 CA10282028	328	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs9626585 CA10282031	330	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282032 rs140056752	330	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282035 rs140056752	330	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282034 rs140056752	330	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282039 rs746392478	331	V>G		No	ClinGen ExAC TOPMed gnomAD
CA411867720 rs568417355	331	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568417355 CA10282038	331	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601533789 CA411867728	332	T>P		No	ClinGen Ensembl
rs772208845 CA10282040	332	T>S		No	ClinGen ExAC TOPMed gnomAD
CA10282042 rs6007344	333	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411867743 rs1302723534	333	G>D		No	ClinGen TOPMed gnomAD
rs6007344 VAR_049139 CA10282041	333	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766112568 CA10282046	334	C>G		No	ClinGen ExAC TOPMed gnomAD
rs138369158 CA10282048	334	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs751477983 CA10282047	334	C>Y		No	ClinGen ExAC gnomAD
rs200062058 CA10282050	335	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200062058 CA411867764	335	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78823624 CA10282052	335	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282051 rs78823624	335	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324942627 rs78823624	335	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757600105 CA10282054	336	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs779146513 CA10282055	336	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA411867777 rs1407877352	336	Q>R		No	ClinGen gnomAD
rs1251858293 CA411867790	337	I>F		No	ClinGen TOPMed gnomAD
rs538813080 CA411867798	337	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282060 rs114279873	339	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148303608 CA10282062	339	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs148303608 CA10282061	339	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282058 rs114279873	339	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411867831 rs770694026	340	S>R		No	ClinGen ExAC gnomAD
rs967599476 CA324942746	340	S>R		No	ClinGen TOPMed
rs774032047 CA10282065	341	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774032047 CA10282066	341	L>I		No	ClinGen ExAC TOPMed gnomAD
rs141400807 CA324942754	341	L>P		No	ClinGen 1000Genomes ExAC TOPMed
rs141400807 CA10282067	341	L>R		No	ClinGen 1000Genomes ExAC TOPMed
CA324942762 rs753462828	342	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10282071 rs753462828	342	P>R		No	ClinGen ExAC TOPMed gnomAD
CA411867856 rs1405805827	343	E>A		No	ClinGen TOPMed gnomAD
CA411867854 rs1369964294	343	E>K		No	ClinGen gnomAD
rs764995745 CA10282073	344	H>P		No	ClinGen ExAC TOPMed gnomAD
CA411867877 rs1416906487	344	H>Q		No	ClinGen TOPMed
rs561241604 CA10282074	345	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1167011211 CA411867885	345	N>S		No	ClinGen TOPMed
rs565888098 CA411867905	346	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139756068 CA10282075	346	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139756068 CA10282076	346	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282078 rs147192731	347	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282079 rs147192731	347	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149696716 CA10282082	348	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149696716 CA10282083	348	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282085 rs772476750	349	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10282086 rs772476750	349	L>I		No	ClinGen ExAC TOPMed gnomAD
CA10282087 rs772476750	349	L>V		No	ClinGen ExAC TOPMed gnomAD
rs73176189 COSM1416754 CA10282092	350	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149853709 CA10282095	350	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149853709 RCV000967592 CA10282093	350	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10282094 rs149853709	350	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411867947 rs758790298	351	Y>C		No	ClinGen ExAC gnomAD
CA10282097 rs758790298	351	Y>F		No	ClinGen ExAC gnomAD
rs758790298 CA10282096	351	Y>S		No	ClinGen ExAC gnomAD
rs1389665311 CA411867961	352	L>R		No	ClinGen gnomAD
CA411867957 rs1187937647	352	L>V		No	ClinGen gnomAD
COSM1714471 CA10282102 rs371688432 CA10282103	353	M>I	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs781752884 CA10282100	353	M>L		No	ClinGen ExAC TOPMed gnomAD
CA10282101 rs201123123	353	M>R		No	ClinGen ExAC TOPMed gnomAD
CA411867969 rs201123123	353	M>T		No	ClinGen ExAC TOPMed gnomAD
CA324942869 rs781752884	353	M>V		No	ClinGen ExAC TOPMed gnomAD
CA411867980 rs1601534052	354	G>D		No	ClinGen Ensembl
CA411867984 rs1260035571	355	F>Y		No	ClinGen TOPMed
CA10282108 rs367647811	356	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs547838010 CA324942907	357	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547838010 CA10282111	357	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183140201 CA324942932	357	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282112 rs776666075	357	H>R		No	ClinGen ExAC gnomAD
rs547838010 CA10282110	357	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111862398 CA411867997	358	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111862398 CA10282117	358	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282115 rs769372407	358	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10282114 rs769372407	358	A>T		No	ClinGen ExAC TOPMed gnomAD
rs111862398 CA10282116	358	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282203 rs748574952	359	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748574952 CA411868390	359	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770333915 CA10282204	360	S>A		No	ClinGen ExAC TOPMed gnomAD
CA10282207 rs779904514	360	S>C		No	ClinGen ExAC gnomAD
rs779904514 CA10282206	360	S>F		No	ClinGen ExAC gnomAD
CA10282205 rs770333915	360	S>P		No	ClinGen ExAC TOPMed gnomAD
CA411868412 rs779904514	360	S>Y		No	ClinGen ExAC gnomAD
rs150225391 CA324951719	361	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282215 rs77740333	361	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282214 rs77740333	361	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282213 COSM188758 rs77740333	361	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150225391 CA10282211	361	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA411868443 rs1403177790	362	E>D		No	ClinGen gnomAD
rs1392503308 CA411868438	362	E>G		No	ClinGen TOPMed gnomAD
CA10282217 rs751158664	362	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs148939053 CA10282218	363	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411868494 rs780893881	365	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1226865349 CA411868500	366	N>H		No	ClinGen gnomAD
CA411868514 rs531750268	366	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282222 rs770106571	367	K>E		No	ClinGen ExAC TOPMed gnomAD
rs770106571 CA411868520	367	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA411868521 rs778294080	367	K>R		No	ClinGen ExAC gnomAD
CA10282223 rs778294080	367	K>T		No	ClinGen ExAC gnomAD
rs1157301347 CA411868541	368	M>I		No	ClinGen TOPMed
rs548683122 CA10282225	368	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs901811340 CA324951782	368	M>T		No	ClinGen Ensembl
rs548683122 CA10282224	368	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324951786 rs200471258	369	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs1190232724 CA411868559	370	S>G		No	ClinGen TOPMed gnomAD
rs774557101 CA10282226	370	S>N		No	ClinGen ExAC gnomAD
rs759755937 CA10282227	371	S>A		No	ClinGen ExAC gnomAD
CA10282229 rs143652701	371	S>C		No	ClinGen ExAC TOPMed gnomAD
rs143652701 CA10282228	371	S>F		No	ClinGen ExAC TOPMed gnomAD
CA324951854 CA411868606 rs771365544	372	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10282233 rs762815063	373	L>R		No	ClinGen ExAC gnomAD
CA411868617 rs574596304	374	A>D		No	ClinGen gnomAD
CA411868613 rs1350908524	374	A>P		No	ClinGen TOPMed
CA324951884 rs574596304	374	A>V		No	ClinGen gnomAD
CA411868635 rs1387182170	375	C>W		No	ClinGen gnomAD
CA10282236 rs774882983	376	V>A		No	ClinGen ExAC gnomAD
CA411868647 rs774882983	376	V>G		No	ClinGen ExAC gnomAD
CA10282235 rs766400143	376	V>I		No	ClinGen ExAC
rs1242921832 CA411868661	378	G>A		No	ClinGen gnomAD
CA10282241 CA10282240 rs199958233	378	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292946626 CA411868669	380	N>H		No	ClinGen gnomAD
rs201566003 CA10282243	380	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1210417742 CA411868674	380	N>K		No	ClinGen gnomAD
rs201566003 CA10282242	380	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1265998567 CA411868685	382	I>F		No	ClinGen gnomAD
CA411868693 rs537336282	383	W>*		No	ClinGen TOPMed
CA324951937 rs537336282	383	W>S		No	ClinGen TOPMed
CA10282244 rs749717827	384	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200531866 CA10282246	385	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282247 rs143738031	385	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282249 COSM108821 rs143738031	385	S>F	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10282248 rs143738031	385	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747197900 CA411868706	386	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs772871377 CA10282254	386	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10282250 rs747197900	386	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA10282252 rs769570870	386	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA411868713 rs147209719	387	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282256 rs147209719	387	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766275911 CA10282255	387	G>R		No	ClinGen ExAC TOPMed gnomAD
rs147209719 CA411868712	387	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282260 rs111961247	388	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555925045 CA10282238	388	V>A		No	ClinGen ExAC
rs138849948 CA10282259	388	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138849948 CA10282258	388	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs554222960 CA10282266 COSM1714473	390	S>F	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs758482492 CA10282271	391	L>R		No	ClinGen ExAC gnomAD
CA10282270 rs779509588	391	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1257743476 CA411868732	392	S>C		No	ClinGen TOPMed gnomAD
CA10282274 rs747174835	392	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1257743476 CA411868731	392	S>R		No	ClinGen TOPMed gnomAD
CA10282273 rs747174835	392	S>T		No	ClinGen ExAC TOPMed gnomAD
rs776955308 CA10282275	393	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411868742 rs150754629	394	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282276 rs150754629	394	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282277 rs770735672	394	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10282278 rs770735672	394	L>R		No	ClinGen ExAC TOPMed gnomAD
rs150754629 CA411868743	394	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771514542 CA411868749	395	V>A		No	ClinGen ExAC TOPMed gnomAD
rs771514542 CA10282280	395	V>G		No	ClinGen ExAC TOPMed gnomAD
CA411868747 rs1418900874	395	V>L		No	ClinGen gnomAD
CA10282284 rs753550836	396	P>L		No	ClinGen ExAC gnomAD
CA10282283 rs763630839	396	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1055217591 COSM284304 CA324952274	398	N>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs780775923 CA10282289	399	M>I		No	ClinGen ExAC TOPMed gnomAD
rs532603393 CA324952296	399	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282288 rs758958527	399	M>R		No	ClinGen ExAC gnomAD
rs532603393 CA10282287	399	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1053645732 CA324952323	400	F>S		No	ClinGen TOPMed
CA411868772 rs1310373475	400	F>V		No	ClinGen TOPMed gnomAD
rs751564737 CA411868782	401	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10282290 rs751564737	401	T>S		No	ClinGen ExAC TOPMed gnomAD
rs41278887 CA411868783	402	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748433800 CA10282293	402	E>A		No	ClinGen ExAC gnomAD
CA411868786 rs1043168949	402	E>D		No	ClinGen TOPMed
CA10282292 rs41278887	402	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41278887 CA10282291	402	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200703595 CA10282294	403	L>M		No	ClinGen ExAC TOPMed gnomAD
rs771964239 CA411868797	405	I>L		No	ClinGen ExAC gnomAD
rs149982577 CA10282300	405	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324952364 rs903361095	405	I>N		No	ClinGen TOPMed
rs771964239 CA10282297	405	I>V		No	ClinGen ExAC gnomAD
CA10282302 rs144526462	406	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282301 rs144526462	406	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144526462 CA10282303	406	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs562032283 CA10282305	407	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005470030 CA324952409	408	Y>*		No	ClinGen TOPMed
CA10282308 rs527743751	408	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282309 rs527743751	408	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752134176 CA10282307	408	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA10282310 rs752806212	409	E>A		No	ClinGen ExAC gnomAD
CA411868817 rs1295086078	409	E>K		No	ClinGen gnomAD
rs756317440 CA10282311	410	K>Q		No	ClinGen ExAC gnomAD
CA411868835 rs1298290679	411	I>T		No	ClinGen gnomAD
CA411868838 rs1225617877	412	F>L		No	ClinGen TOPMed gnomAD
rs1271670849 CA411868841	412	F>Y		No	ClinGen gnomAD
CA324952446 rs369230909	413	S>I		No	ClinGen ESP TOPMed
CA411868851 rs1321950865	413	S>R		No	ClinGen TOPMed gnomAD
CA411868856 rs1223234991	414	T>N		No	ClinGen gnomAD
rs566631776 CA10282316	415	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_049140 rs2071762 CA10282318	415	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2071762 CA10282319	415	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282317 rs566631776	415	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566631776 CA411868859	415	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282323 rs568842004	416	E>A		No	ClinGen 1000Genomes
rs142398288 CA10282325	416	E>D		No	ClinGen ESP ExAC gnomAD
CA10282322 rs763364625	416	E>Q		No	ClinGen ExAC gnomAD
CA10282328 rs760106218	417	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10282326 rs774654624	417	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10282327 rs760106218	417	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756233338 CA10282331	418	P>A		No	ClinGen ExAC TOPMed gnomAD
rs9614957 CA10282333	418	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9614957 CA411868870	418	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_061182 rs9614957 CA10282332	418	P>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756233338 CA411868869	418	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756233338 CA324952551	418	P>T		No	ClinGen ExAC TOPMed gnomAD
CA324952589 rs1041208548	419	G>A		No	ClinGen TOPMed
CA10282336 rs758057449	419	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10282335 rs758057449	419	G>W		No	ClinGen ExAC TOPMed gnomAD
rs746836371 CA10282337	420	E>A		No	ClinGen ExAC gnomAD
rs150417644 CA10282339	420	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411868886 CA10282342 rs41278889	421	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282343 rs140567858	422	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324952607 rs140567858	422	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140567858 CA10282344	422	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1269088829 CA411868893	423	L>P		No	ClinGen TOPMed gnomAD
CA411868897 rs774768324	424	A>G		No	ClinGen ExAC TOPMed
rs771146946 CA10282346	424	A>T		No	ClinGen ExAC gnomAD
CA10282347 rs774768324 COSM726879	424	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1569191746 CA411868900	425	P>A		No	ClinGen Ensembl
CA411868904 rs1485063891	425	P>L		No	ClinGen TOPMed
rs1569191746 CA411868901	425	P>S		No	ClinGen Ensembl
CA10282353 rs577495763	426	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282355 rs754001932	426	W>C		No	ClinGen ExAC TOPMed
CA411868906 rs775996813	426	W>G		No	ClinGen ExAC
CA10282352 rs775996813	426	W>R		No	ClinGen ExAC
rs577495763 CA10282354	426	W>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411868910 rs202125480	427	E>*		No	ClinGen ExAC gnomAD
CA10282361 rs781228108	427	E>D		No	ClinGen ExAC TOPMed
rs751335303 CA10282358	427	E>G		No	ClinGen ExAC gnomAD
rs202125480 CA10282356	427	E>K		No	ClinGen ExAC gnomAD
rs202125480 CA10282357	427	E>Q		No	ClinGen ExAC gnomAD
rs751335303 CA10282359	427	E>V		No	ClinGen ExAC gnomAD
rs1569191791 CA411868914	428	Q>*		No	ClinGen Ensembl
CA411868919 rs546444156	428	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601542394 CA411868923	429	G>E		No	ClinGen Ensembl
CA10282364 rs755619225	429	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1357118573 CA411868928	430	S>C		No	ClinGen TOPMed
CA10282367 rs748810793	430	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1416031271 CA411868934	431	R>G		No	ClinGen gnomAD
CA10282369 rs778473188	431	R>K		No	ClinGen ExAC TOPMed gnomAD
CA411868936 rs778473188	431	R>M		No	ClinGen ExAC TOPMed gnomAD
rs41278891 CA10282370 CA411868937	431	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411868935 rs778473188	431	R>T		No	ClinGen ExAC TOPMed gnomAD
CA411868939 rs772351105	432	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10282371 rs772351105	432	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411868948 rs1317607933	433	A>G		No	ClinGen TOPMed gnomAD
rs1398902079 CA411868944	433	A>P		No	ClinGen gnomAD
CA10282372 rs775905095	434	P>A		No	ClinGen ExAC gnomAD
rs367662795 CA411868952	434	P>L		No	ClinGen ESP ExAC gnomAD
rs367662795 CA10282373	434	P>R		No	ClinGen ESP ExAC gnomAD
CA411868950 rs775905095	434	P>S		No	ClinGen ExAC gnomAD
CA411868957 rs776687166 CA10282375	435	L>F		No	ClinGen ExAC TOPMed gnomAD
CA324952838 rs924836785	435	L>S		No	ClinGen TOPMed gnomAD
rs924836785 CA411868956	435	L>W		No	ClinGen TOPMed gnomAD
rs761837941 COSM1034984 CA10282376	436	Q>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761837941 CA411868959	436	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA10282377 rs765477899	436	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs138911000 CA324952856	437	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282379 rs759336392	437	E>G		No	ClinGen ExAC gnomAD
CA10282378 rs376107530	437	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752627982 CA10282381	438	A>S		No	ClinGen ExAC TOPMed gnomAD
rs542548127 CA10282383	439	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183102237 CA411868975	439	V>M		No	ClinGen gnomAD
CA324952872 rs1025273622	440	P>L		No	ClinGen TOPMed
CA10282385 rs201182751	440	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10282388 rs147816304	441	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144546780 CA10282390	441	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144546780 CA10282389	441	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147816304 CA10282386	441	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780382983 CA10282393	442	T>I		No	ClinGen ExAC gnomAD
rs564457696 CA324952897	442	T>P		No	ClinGen 1000Genomes
CA324952914 rs368545557	443	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368545557 CA10282394	443	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279332584 CA411868990	443	Q>H		No	ClinGen gnomAD
CA411868988 rs368545557	443	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA324952917 rs201933315	443	Q>P		No	ClinGen ESP ExAC gnomAD
CA10282395 rs201933315	443	Q>R		No	ClinGen ESP ExAC gnomAD
rs1237263340 CA411868994	444	A>D		No	ClinGen gnomAD
rs777170122 CA10282396	444	A>T		No	ClinGen ExAC gnomAD
rs377110472 CA324952947	445	T>A		No	ClinGen ESP TOPMed
CA10282397 rs148880070	445	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377110472 CA411868997	445	T>P		No	ClinGen ESP TOPMed
CA10282398 rs148880070	445	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411869002 rs141688811	446	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs766770295 CA10282401	446	G>C		No	ClinGen ExAC gnomAD
CA10282402 COSM1616543 rs141688811	446	G>D	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1180831708 CA411869006	447	L>F		No	ClinGen gnomAD
rs764103122 CA10282404	447	L>R		No	ClinGen ExAC gnomAD
rs1478981225 CA411869013	448	T>I		No	ClinGen TOPMed gnomAD
rs145959767 CA10282405	448	T>P		No	ClinGen 1000Genomes ExAC TOPMed
rs1478981225 CA411869012	448	T>S		No	ClinGen TOPMed gnomAD
CA324953002 rs139825565	449	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282408 rs201231949	449	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282409 rs200337395	449	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282406 rs139825565	449	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201231949 CA411869015	449	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282407 rs201231949	449	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411869017 rs1030625102	450	P>A		No	ClinGen TOPMed gnomAD
rs747350322 CA10282411	450	P>L		No	ClinGen ExAC
CA324953016 rs1030625102	450	P>T		No	ClinGen TOPMed gnomAD
rs781696528 CA10282413	451	T>A		No	ClinGen ExAC gnomAD
rs1163413491 CA411869024	451	T>I		No	ClinGen TOPMed
rs781696528 CA324953021	451	T>P		No	ClinGen ExAC gnomAD
rs1163413491 CA411869023	451	T>S		No	ClinGen TOPMed
CA10282417 rs568022190	452	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10282416 rs773156645	452	L>V		No	ClinGen ExAC gnomAD
rs977400440 CA411869029	453	P>A		No	ClinGen TOPMed
CA411869032 rs1229321716	453	P>L		No	ClinGen gnomAD
rs977400440 CA324953053	453	P>S		No	ClinGen TOPMed
CA10282419 rs371629439	454	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs573395597 CA10282420	454	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10282421 rs573395597	454	P>R		No	ClinGen ExAC TOPMed gnomAD
CA411869033 rs371629439	454	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761638111 CA10282423	455	S>G		No	ClinGen ExAC TOPMed gnomAD
CA10282424 rs765285841	455	S>N		No	ClinGen ExAC gnomAD
rs761638111 CA411869036	455	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1308606284 CA411869041	455	S>R		No	ClinGen TOPMed
CA411869038 rs765285841	455	S>T		No	ClinGen ExAC gnomAD
rs749869418 CA10282425	456	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10282426 rs757951817	456	P>H		No	ClinGen ExAC TOPMed gnomAD
CA324953117 rs757951817	456	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749869418 CA411869043	456	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1189946117 CA411869046	457	L>V		No	ClinGen gnomAD
CA411869054 rs1163435895	458	M>I		No	ClinGen gnomAD
CA10282429 rs751246491	458	M>L		No	ClinGen ExAC TOPMed gnomAD
rs755270704 CA10282430	458	M>R		No	ClinGen ExAC TOPMed
rs781425132 CA411869061	459	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10282431 rs781425132	459	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10282435 rs778388116	460	A>D		No	ClinGen ExAC gnomAD
rs778388116 CA10282436	460	A>G		No	ClinGen ExAC gnomAD
rs756578409 CA10282434	460	A>T		No	ClinGen ExAC gnomAD
CA10282438 rs774644991	461	R>G		No	ClinGen ExAC gnomAD
rs146164970 CA10282439	461	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411869067 rs146164970	461	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776282488 CA411869072	462	R>K		No	ClinGen ExAC gnomAD
rs1285059514 CA411869074 CA411869075	462	R>S		No	ClinGen gnomAD
rs776282488 CA10282441	462	R>T		No	ClinGen ExAC gnomAD
CA10282442 rs139980639	463	R>C		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA10282444 rs376235062	463	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376235062 CA411869078	463	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10282445 rs376235062	463	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs560116830 CA10282448	464	L>F		No	ClinGen ExAC gnomAD
CA10282450 rs762411913	464	L>P		No	ClinGen ExAC TOPMed gnomAD
rs762411913 CA10282449	464	L>R		No	ClinGen ExAC TOPMed gnomAD
rs185310853 CA10282452	465	L>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185310853 CA10282453	465	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10282454 rs752977847	465	L>S		No	ClinGen ExAC TOPMed gnomAD
CA411869085 rs756553478	465	L>Y		No	ClinGen ExAC gnomAD

No associated diseases with P85298

7 regional properties for P85298

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	648 - 906	IPR000719
active_site	Serine/threonine-protein kinase, active site	767 - 779	IPR008271
binding_site	Protein kinase, ATP binding site	654 - 677	IPR017441
domain	MAP3K, TRAFs-binding domain	129 - 507	IPR025136
domain	MAP3K, PH domain	524 - 618	IPR043969
domain	MAP3K, deoxyribohydrolase domain	74 - 114	IPR046872
domain	MAP3K, HisK-N-like globin domain	993 - 1122	IPR046873

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

1 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.

4 GO annotations of biological process

Name	Definition
negative regulation of endocytic recycling	Any process that stops, prevents or reduces the frequency, rate or extent of endocytic recycling.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
small GTPase-mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VTU3	RhoGAP68F	Rho GTPase-activating protein 68F	Drosophila melanogaster (Fruit fly)	PR
Q07960	ARHGAP1	Rho GTPase-activating protein 1	Homo sapiens (Human)	EV

10	20	30	40	50	60
MAGQDPALST	SHPFYDVARH	GILQVAGDDR	FGRRVVTFSC	CRMPPSHELD	HQRLLEYLKY
70	80	90	100	110	120
TLDQYVENDY	TIVYFHYGLN	SRNKPSLGWL	QSAYKEFDRK	DGDLTMWPRL	VSNSKLKRSS
130	140	150	160	170	180
HLSLPKYWDY	RYKKNLKALY	VVHPTSFIKV	LWNILKPLIS	HKFGKKVIYF	NYLSELHEHL
190	200	210	220	230	240
KYDQLVIPPE	VLRYDEKLQS	LHEGRTPPPT	KTPPPRPPLP	TQQFGVSLQY	LKDKNQGELI
250	260	270	280	290	300
PPVLRFTVTY	LREKGLRTEG	LFRRSASVQT	VREIQRLYNQ	GKPVNFDDYG	DIHIPAVILK
310	320	330	340	350	360
TFLRELPQPL	LTFQAYEQIL	GITCVESSLR	VTGCRQILRS	LPEHNYVVLR	YLMGFLHAVS
370	380	390	400	410	420
RESIFNKMNS	SNLACVFGLN	LIWPSQGVSS	LSALVPLNMF	TELLIEYYEK	IFSTPEAPGE
430	440	450	460
HGLAPWEQGS	RAAPLQEAVP	RTQATGLTKP	TLPPSPLMAA	RRRL