RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

Summary

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Known Variants414 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73959247	2:135,809,572	T/G	—	benign
rs188803711	2:135,809,740	T/C	—	likely benign
rs78560065	2:135,809,825	C/G	—	likely benign
rs202050016	2:135,809,874	C/T	—	uncertain significance
rs1054926336	2:135,809,882	C/T	—	uncertain significance
rs760094551	2:135,809,889	C/T	—	likely benign
rs1224313284	2:135,809,896	G/C	—	likely pathogenic
rs374426728	2:135,809,898	G/C	—	uncertain significance
rs550325115	2:135,809,899	A/G	—	conflicting classifications of pathogenicity
rs186228983	2:135,809,903	C/T	—	likely benign
rs368137841	2:135,809,983	C/T	—	likely benign
rs761312443	2:135,809,987	C/T	—	likely benign
rs1297682144	2:135,809,990	C/G	—	likely benign
rs776821620	2:135,810,002	C/G	—	likely benign
rs1688906713	2:135,810,016	T/C	—	uncertain significance
rs759271846	2:135,810,023	C/T	—	likely benign
rs1429686632	2:135,810,024	A/G	—	uncertain significance
rs587777154	2:135,810,033	A/C	missense variant	pathogenic
rs145829300	2:135,810,049	G/A	—	pathogenic
rs587777155	2:135,810,052	A/T	missense variant	pathogenic
rs1309761635	2:135,810,063	A/T	—	likely benign
rs753425901	2:135,810,069	A/G	—	likely benign
rs1688908744	2:135,810,070	T/A	—	likely benign
rs150851637	2:135,810,190	C/T	—	likely benign
rs75467128	2:135,810,191	C/T	—	likely benign
rs59720178	2:135,810,349	C/T	—	benign
rs1689062422	2:135,815,573	C/T	—	likely benign
rs760495553	2:135,815,584	T/C	—	likely benign
rs143078664	2:135,815,600	G/A	—	uncertain significance
rs2468054561	2:135,815,623	G/A	—	likely benign
rs372830337	2:135,815,630	A/G	—	uncertain significance
rs1430768930	2:135,815,639	G/A	—	uncertain significance
rs1689065578	2:135,815,647	A/C	—	likely benign
rs568229019	2:135,815,650	C/T	—	likely benign
rs1028276025	2:135,815,659	C/G	—	uncertain significance
rs770180077	2:135,815,670	G/T	—	likely benign
rs12104439	2:135,815,806	A/T	—	benign
rs74995972	2:135,815,831	T/C	—	likely benign
rs115343510	2:135,815,836	G/A	—	likely benign
rs7570971	2:135,837,906	C/T	—	—
rs770936606	2:135,848,549	A/G	—	likely benign
rs2468125712	2:135,848,555	T/C	—	likely benign
rs1690127143	2:135,848,563	T/G	—	pathogenic
rs1473286103	2:135,848,564	A/G	—	likely benign
rs1388728601	2:135,848,570	T/C	—	likely benign
rs148441684	2:135,848,601	T/A	—	uncertain significance
rs2468125924	2:135,848,615	C/T	—	likely benign
rs1574100423	2:135,848,627	C/T	—	likely benign
rs372673436	2:135,848,634	T/G	—	uncertain significance
rs2468125996	2:135,848,636	A/G	—	likely benign
rs200332256	2:135,848,652	C/G	—	uncertain significance
rs767842373	2:135,848,656	T/C	—	conflicting classifications of pathogenicity
rs145219231	2:135,848,657	A/C	—	likely benign
rs757292994	2:135,848,684	G/A	—	likely benign
rs2468126255	2:135,848,697	G/A	—	uncertain significance
rs1395762017	2:135,848,713	T/C	—	likely benign
rs72978333	2:135,850,950	A/G	—	benign
rs200902906	2:135,851,198	A/G	—	uncertain significance
rs1690209343	2:135,851,200	C/G	—	uncertain significance
rs369370987	2:135,851,202	A/G	—	uncertain significance
rs2468131022	2:135,851,204	G/A	—	uncertain significance
rs73959261	2:135,851,258	A/G	—	benign
rs777491232	2:135,851,272	A/T	—	likely benign
rs749231118	2:135,851,273	T/G	—	likely benign
rs112318152	2:135,870,402	T/A	—	likely benign
rs59593924	2:135,870,406	A/T	—	benign
rs61203852	2:135,870,408	A/T	—	benign
rs1286464147	2:135,870,412	A/T	—	likely benign
rs757201107	2:135,870,414	A/T	—	benign
rs373856321	2:135,870,709	T/A	—	likely benign
rs886054850	2:135,870,730	A/G	—	uncertain significance
rs200250746	2:135,870,731	C/T	—	uncertain significance
rs778655079	2:135,870,739	C/T	—	likely benign
rs1005718589	2:135,870,740	G/A	—	uncertain significance
rs779596900	2:135,870,751	C/T	—	uncertain significance
rs768154592	2:135,870,752	C/T	—	uncertain significance
rs1690867663	2:135,870,760	A/C	—	likely benign
rs770201219	2:135,870,762	A/G	—	uncertain significance
rs140929274	2:135,870,769	C/T	—	conflicting classifications of pathogenicity
rs1690868164	2:135,870,770	G/A	—	uncertain significance
rs145748693	2:135,870,781	C/T	—	likely benign
rs766549363	2:135,870,782	G/A	—	uncertain significance
rs201758067	2:135,870,784	A/G	—	likely benign
rs750345824	2:135,870,818	A/G	—	uncertain significance
rs2104913239	2:135,870,823	C/T	—	likely benign
rs1558782178	2:135,870,827	G/T	—	pathogenic
rs746473834	2:135,870,829	A/G	—	likely benign
rs886043202	2:135,870,833	—	—	pathogenic
rs1690872807	2:135,870,841	G/A	—	pathogenic
rs2104913303	2:135,870,843	G/A	—	uncertain significance
rs535165082	2:135,870,858	A/G	—	likely benign
rs111698645	2:135,870,988	C/T	—	likely benign
rs62170181	2:135,871,064	A/G	—	benign
rs4954220	2:135,872,646	C/A	—	benign
rs755834907	2:135,872,810	T/A	—	likely benign
rs1690935601	2:135,872,815	A/G	—	uncertain significance
rs2104916488	2:135,872,822	G/A	—	pathogenic
rs749616608	2:135,872,823	C/T	—	pathogenic
rs771432170	2:135,872,824	G/A	—	uncertain significance
rs1033042886	2:135,872,830	T/C	—	uncertain significance

Showing 100 of 414 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.