RASGRP2

RAS guanyl releasing protein 2

Summary

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Known Variants177 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1555120400	11:64,494,783	G/C	—	uncertain significance
rs139115510	11:64,494,807	C/T	—	benign
rs372060305	11:64,494,816	C/T	—	conflicting classifications of pathogenicity
rs149482849	11:64,494,826	C/T	—	uncertain significance
rs144800583	11:64,494,827	G/A	—	conflicting classifications of pathogenicity
rs57916126	11:64,496,152	G/A	—	benign
rs761204351	11:64,496,328	C/G	—	likely benign
rs2230414	11:64,496,357	G/T	—	benign
rs200196770	11:64,496,365	G/A	—	uncertain significance
rs540982034	11:64,496,387	G/A	—	likely benign
rs202192382	11:64,496,388	C/A	—	likely benign
rs770760594	11:64,496,389	G/A	—	uncertain significance
rs2496430115	11:64,496,422	G/T	—	uncertain significance
rs1326711154	11:64,496,458	G/A	—	uncertain significance
rs144624605	11:64,496,479	G/A	—	uncertain significance
rs75902820	11:64,496,517	G/T	—	benign
rs768757510	11:64,496,521	G/A	—	likely benign
rs559977	11:64,496,587	T/C	—	benign
rs74693180	11:64,496,744	C/T	—	benign
rs72927040	11:64,496,745	G/A	—	likely benign
rs190111625	11:64,496,966	G/A	—	benign
rs2003293	11:64,496,997	C/T	—	benign
rs534221	11:64,497,161	C/T	—	benign
rs533515	11:64,497,189	A/C	—	benign
rs779966506	11:64,497,262	G/A	—	likely benign
rs200215766	11:64,497,509	G/A	—	benign
rs758677823	11:64,497,522	C/T	—	uncertain significance
rs962281617	11:64,497,530	C/A	—	uncertain significance
rs1181529611	11:64,497,539	G/A	—	uncertain significance
rs200117326	11:64,497,576	G/T	—	uncertain significance
rs2496446094	11:64,497,599	G/A	—	uncertain significance
rs771647146	11:64,497,605	C/A	—	uncertain significance
rs140514685	11:64,497,613	G/C	—	likely benign
rs760132708	11:64,497,622	C/T	—	uncertain significance
rs2057719765	11:64,497,651	G/A	—	likely benign
rs368402538	11:64,497,680	C/T	—	likely benign
rs2496447952	11:64,497,686	C/T	—	likely benign
rs183195599	11:64,502,538	G/A	intron variant	—
rs1339882402	11:64,502,577	T/C	—	likely benign
rs2496490002	11:64,502,582	A/G	—	likely pathogenic
rs145230586	11:64,502,610	G/A	—	likely benign
rs371857837	11:64,502,633	G/A	—	uncertain significance
rs866720222	11:64,502,643	G/A	—	likely benign
rs2496491363	11:64,502,658	G/A	—	likely benign
rs375253063	11:64,502,661	G/A	—	likely benign
rs2496491928	11:64,502,681	C/T	—	uncertain significance
rs750452972	11:64,502,682	A/T	—	uncertain significance
rs371237302	11:64,502,690	G/A	—	uncertain significance
rs759640692	11:64,502,709	G/A	—	likely benign
rs374775399	11:64,502,715	G/A	—	likely benign
rs116194408	11:64,502,754	T/G	—	benign
rs1315465632	11:64,502,995	A/G	—	likely benign
rs2496497835	11:64,503,018	A/G	—	uncertain significance
rs907671862	11:64,503,029	G/A	—	likely benign
rs141842144	11:64,503,043	C/T	—	conflicting classifications of pathogenicity
rs2057907283	11:64,503,070	C/T	—	uncertain significance
rs760036449	11:64,503,074	C/T	—	likely benign
rs753022840	11:64,503,083	C/T	—	likely benign
rs758747785	11:64,503,095	C/T	—	likely benign
rs141700750	11:64,503,096	G/A	—	uncertain significance
rs139873299	11:64,503,099	G/T	—	uncertain significance
rs779716553	11:64,503,103	G/A	—	uncertain significance
rs1043393083	11:64,503,122	C/T	—	likely benign
rs768737956	11:64,503,123	G/A	—	uncertain significance
rs1418776655	11:64,503,149	T/C	—	likely benign
rs564246353	11:64,503,150	C/G	—	likely benign
rs112436682	11:64,503,151	G/A	—	likely benign
rs553618	11:64,503,179	A/G	—	benign
rs10897524	11:64,503,363	G/A	—	benign
rs374163992	11:64,503,367	C/T	—	conflicting classifications of pathogenicity
rs112380141	11:64,503,374	C/T	—	likely pathogenic
rs746056618	11:64,503,389	G/A	—	uncertain significance
rs71583719	11:64,503,398	G/A	—	uncertain significance
rs767965347	11:64,503,406	G/A	—	pathogenic
rs2496504835	11:64,503,415	T/A	—	uncertain significance
rs139499587	11:64,503,430	G/A	—	uncertain significance
rs1422853775	11:64,503,461	C/T	—	likely benign
rs2496505616	11:64,503,463	C/T	—	likely benign
rs556356	11:64,503,496	A/G	—	benign
rs115462603	11:64,504,010	C/T	—	likely benign
rs200768691	11:64,504,254	C/T	—	conflicting classifications of pathogenicity
rs200434813	11:64,504,287	C/G	—	likely pathogenic
rs374345558	11:64,504,321	C/G	—	likely pathogenic
rs141060165	11:64,504,329	C/T	—	uncertain significance
rs199792530	11:64,504,330	G/C	—	uncertain significance
rs753605072	11:64,504,360	G/A	—	likely benign
rs148512923	11:64,504,366	C/G	—	likely benign
rs1302427908	11:64,504,381	G/A	—	likely benign
rs1592371840	11:64,504,406	C/T	—	likely pathogenic
rs568335357	11:64,504,421	C/T	—	uncertain significance
rs202159133	11:64,504,422	G/A	—	uncertain significance
rs1358258863	11:64,504,429	C/T	—	likely benign
rs2135765010	11:64,504,433	C/T	—	likely pathogenic
rs1592372097	11:64,504,454	T/C	—	likely pathogenic
rs151064203	11:64,504,474	C/T	—	likely benign
rs367847638	11:64,504,478	G/A	—	uncertain significance
rs757719823	11:64,504,490	G/A	—	uncertain significance
rs79402611	11:64,504,512	G/A	—	likely benign
rs667237	11:64,506,539	G/A	—	benign
rs754141015	11:64,506,844	A/T	—	likely benign

Showing 100 of 177 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.