RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

Summary

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

Known Variants631 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs533792649	1:220,321,692	C/A	—	uncertain significance
rs886046006	1:220,321,824	C/A	—	uncertain significance
rs1004870855	1:220,321,898	A/G	—	uncertain significance
rs886046007	1:220,321,950	A/G	—	uncertain significance
rs74139286	1:220,321,955	G/A	—	likely benign
rs886046009	1:220,322,043	C/G	—	uncertain significance
rs528100310	1:220,322,075	T/C	—	uncertain significance
rs111341601	1:220,322,129	A/G	—	likely benign
rs568052992	1:220,322,143	C/A	—	uncertain significance
rs115637988	1:220,322,194	T/C	—	likely benign
rs1657684140	1:220,322,207	T/G	—	uncertain significance
rs886046010	1:220,322,246	A/G	—	uncertain significance
rs1049662170	1:220,322,257	A/C	—	uncertain significance
rs139079455	1:220,322,266	T/C	—	likely benign
rs886046012	1:220,322,383	C/G	—	uncertain significance
rs370566079	1:220,322,417	C/G	—	uncertain significance
rs570021838	1:220,322,422	T/C	—	uncertain significance
rs149913096	1:220,322,491	G/T	—	uncertain significance
rs367962640	1:220,322,550	C/T	—	benign
rs144988111	1:220,322,772	G/A	—	uncertain significance
rs556118037	1:220,322,802	A/G	—	uncertain significance
rs1422943080	1:220,323,033	T/C	—	uncertain significance
rs962614083	1:220,323,034	G/A	—	uncertain significance
rs143472001	1:220,323,055	A/G	—	uncertain significance
rs185153185	1:220,323,066	C/G	—	likely benign
rs41303053	1:220,323,089	C/A	—	benign
rs555263194	1:220,323,123	C/T	—	uncertain significance
rs146743192	1:220,323,140	A/C	—	uncertain significance
rs188666578	1:220,323,189	A/G	—	likely benign
rs1657714085	1:220,323,253	A/G	—	uncertain significance
rs747221160	1:220,323,258	G/A	—	uncertain significance
rs193019999	1:220,323,322	G/A	—	likely benign
rs865932881	1:220,323,450	T/C	—	uncertain significance
rs548918189	1:220,323,463	T/C	—	benign
rs1558135886	1:220,323,506	T/G	—	uncertain significance
rs185747953	1:220,323,668	G/A	—	benign
rs1377423461	1:220,323,816	A/G	—	uncertain significance
rs188031183	1:220,323,948	G/A	—	likely benign
rs540128548	1:220,324,021	C/A	—	likely benign
rs886046015	1:220,324,056	C/G	—	uncertain significance
rs1046907825	1:220,324,084	C/T	—	uncertain significance
rs1027206904	1:220,324,157	T/C	—	uncertain significance
rs576040740	1:220,324,176	T/C	—	uncertain significance
rs1059140	1:220,324,189	A/G	—	benign
rs180750746	1:220,324,202	G/A	—	uncertain significance
rs765864531	1:220,324,219	A/C	—	uncertain significance
rs886046016	1:220,324,485	A/T	—	uncertain significance
rs1041418234	1:220,324,489	A/G	—	uncertain significance
rs773904586	1:220,324,515	C/T	—	uncertain significance
rs1262016596	1:220,324,595	A/T	—	uncertain significance
rs2528603686	1:220,324,596	T/C	—	likely benign
rs748706137	1:220,324,611	T/G	—	likely benign
rs772430156	1:220,324,614	G/A	—	likely benign
rs759823450	1:220,324,625	C/T	—	uncertain significance
rs763962470	1:220,324,656	C/T	—	likely benign
rs1267987913	1:220,324,662	T/C	—	likely benign
rs59190330	1:220,324,715	T/C	—	conflicting classifications of pathogenicity
rs776837900	1:220,324,716	T/G	—	likely benign
rs1558136466	1:220,324,724	C/G	—	uncertain significance
rs759886176	1:220,324,737	G/A	—	likely benign
rs1657751086	1:220,324,746	G/T	—	uncertain significance
rs779800010	1:220,324,753	A/G	—	likely benign
rs373885234	1:220,324,763	C/G	—	likely benign
rs2789790	1:220,324,889	C/G	—	benign
rs1315582558	1:220,324,929	C/G	—	likely benign
rs771446188	1:220,324,935	C/T	—	likely benign
rs140981708	1:220,324,936	T/C	—	likely benign
rs746827542	1:220,324,938	T/C	—	likely benign
rs1032986519	1:220,324,941	T/C	—	likely benign
rs1553272940	1:220,324,949	A/G	—	uncertain significance
rs539609673	1:220,324,975	G/A	—	likely benign
rs768393894	1:220,324,978	T/C	—	likely benign
rs149842844	1:220,324,983	G/T	—	likely benign
rs886046017	1:220,324,996	C/A	—	uncertain significance
rs150226729	1:220,325,008	T/C	—	likely benign
rs1571871092	1:220,325,013	T/C	—	uncertain significance
rs754641718	1:220,325,018	G/A	—	uncertain significance
rs778048062	1:220,325,029	C/T	—	likely benign
rs202192080	1:220,325,030	G/A	—	uncertain significance
rs146611810	1:220,325,032	A/G	—	likely benign
rs368839721	1:220,325,034	G/A	—	conflicting classifications of pathogenicity
rs770067001	1:220,325,049	C/T	—	uncertain significance
rs73098539	1:220,325,050	C/G	—	likely benign
rs776180834	1:220,325,090	T/C	—	uncertain significance
rs867127053	1:220,325,098	T/C	—	likely benign
rs886046018	1:220,325,114	T/C	—	conflicting classifications of pathogenicity
rs1310779201	1:220,325,116	G/C	—	uncertain significance
rs1437514805	1:220,325,124	G/A	—	likely benign
rs12032738	1:220,325,137	G/C	—	benign
rs114940727	1:220,326,494	G/C	—	likely benign
rs200579008	1:220,326,514	G/A	—	conflicting classifications of pathogenicity
rs768043319	1:220,326,517	T/C	—	likely benign
rs1387931144	1:220,326,532	C/A	—	pathogenic
rs34081806	1:220,326,552	T/C	—	conflicting classifications of pathogenicity
rs886046019	1:220,326,565	C/G	—	uncertain significance
rs370057302	1:220,326,576	T/C	—	uncertain significance
rs778851334	1:220,326,589	C/T	—	uncertain significance
rs373515509	1:220,326,597	C/T	—	uncertain significance
rs746837602	1:220,326,622	C/A	—	uncertain significance
rs564016323	1:220,326,637	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 631 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.