ARHGAP24

Rho GTPase activating protein 24

Summary

This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Known Variants197 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2062080	4:86,450,944	C/G	—	—
rs12506039	4:86,451,003	A/G	intron variant	—
rs6838692	4:86,456,155	A/G	—	—
rs1871823	4:86,491,434	C/T	—	benign
rs71599418	4:86,491,590	C/T	—	likely benign
rs150698221	4:86,491,702	A/G	—	uncertain significance
rs779573890	4:86,491,718	G/A	—	likely benign
rs533903357	4:86,491,743	C/T	—	conflicting classifications of pathogenicity
rs555486295	4:86,491,744	G/A	—	uncertain significance
rs770958088	4:86,491,810	G/A	—	uncertain significance
rs201841441	4:86,491,814	G/A	—	uncertain significance
rs868093634	4:86,491,818	G/C	—	uncertain significance
rs139936589	4:86,491,858	A/T	—	uncertain significance
rs377600102	4:86,491,859	T/C	—	likely benign
rs149415202	4:86,491,861	A/G	—	conflicting classifications of pathogenicity
rs777466544	4:86,491,872	T/G	—	uncertain significance
rs113510981	4:86,491,968	G/A	—	benign
rs17384463	4:86,492,018	G/A	—	benign
rs73835219	4:86,492,061	A/G	—	benign
rs552283803	4:86,496,830	T/C	—	—
rs574493019	4:86,547,543	T/A	—	—
rs7692808	4:86,641,149	A/T	—	—
rs6841314	4:86,642,818	T/C	—	benign
rs77888552	4:86,642,856	G/A	—	likely benign
rs77500011	4:86,642,907	A/G	—	likely benign
rs6816135	4:86,642,999	C/A	—	benign
rs144785317	4:86,643,057	G/A	—	conflicting classifications of pathogenicity
rs1724959423	4:86,643,064	A/G	—	likely benign
rs748396958	4:86,643,074	C/T	—	uncertain significance
rs1724960964	4:86,643,103	G/T	—	uncertain significance
rs17010697	4:86,643,155	A/C	—	benign
rs343864	4:86,643,334	G/A	—	benign
rs116523903	4:86,643,367	A/C	—	benign
rs7660702	4:86,651,464	T/G	—	—
rs2624021	4:86,657,420	A/G	—	—
rs13137008	4:86,674,199	G/T	intron variant	—
rs11732231	4:86,683,560	G/C	regulatory region variant	—
rs141979424	4:86,693,943	T/G	intron variant	—
rs7687906	4:86,715,312	G/T	intron variant	—
rs72976750	4:86,725,684	T/C	intron variant	—
rs72976751	4:86,725,959	A/T	intron variant	—
rs17011002	4:86,731,385	C/A	—	—
rs72978881	4:86,737,468	A/G	intron variant	—
rs17011016	4:86,749,306	T/C	—	benign
rs74735409	4:86,749,455	A/G	—	likely benign
rs185746473	4:86,816,732	G/C	intron variant	—
rs28721934	4:86,844,482	G/C	—	benign
rs762196452	4:86,844,793	T/C	—	benign
rs61732809	4:86,844,805	C/T	—	benign
rs2148811777	4:86,844,809	C/T	—	uncertain significance
rs754847297	4:86,844,810	G/A	—	uncertain significance
rs145434155	4:86,844,816	G/A	—	uncertain significance
rs6824722	4:86,844,835	A/G	—	benign
rs1560720434	4:86,844,862	G/C	—	uncertain significance
rs753544109	4:86,844,890	A/G	—	uncertain significance
rs140738674	4:86,844,916	C/T	—	likely benign
rs762016721	4:86,844,930	G/A	—	likely benign
rs566785591	4:86,844,933	C/T	—	benign
rs346518	4:86,844,948	G/A	—	benign
rs6825260	4:86,845,000	C/G	—	benign
rs77186452	4:86,845,148	C/T	—	likely benign
rs75839889	4:86,847,879	T/C	intron variant	—
rs11947375	4:86,851,308	A/T	—	benign
rs111818228	4:86,851,317	C/T	—	likely benign
rs115899323	4:86,851,334	G/C	—	benign
rs346498	4:86,851,560	G/A	—	benign
rs2280036	4:86,851,596	T/C	—	benign
rs13126782	4:86,851,884	G/T	—	benign
rs759353752	4:86,852,083	G/A	—	likely benign
rs61758879	4:86,852,097	T/G	—	benign
rs62305513	4:86,852,508	G/C	—	benign
rs12650390	4:86,863,032	G/A	—	benign
rs346508	4:86,863,166	T/C	—	benign
rs181571994	4:86,863,199	T/G	—	benign
rs149943050	4:86,863,243	A/T	—	benign
rs36067390	4:86,863,252	G/A	—	benign
rs772914890	4:86,863,268	T/C	—	likely benign
rs1213178401	4:86,863,285	C/T	—	uncertain significance
rs112475438	4:86,863,300	A/G	—	uncertain significance
rs2148825209	4:86,863,309	A/G	—	uncertain significance
rs1396995920	4:86,863,321	A/C	—	uncertain significance
rs2148825242	4:86,863,336	A/C	—	uncertain significance
rs140938117	4:86,863,352	A/G	—	likely benign
rs770512483	4:86,863,362	C/A	—	uncertain significance
rs1473315079	4:86,863,364	G/C	—	uncertain significance
rs776254762	4:86,863,377	A/G	—	uncertain significance
rs1466171262	4:86,863,382	G/C	—	uncertain significance
rs1560734401	4:86,863,403	T/C	—	likely benign
rs2546134100	4:86,863,411	A/C	—	uncertain significance
rs1306302298	4:86,863,418	A/G	—	likely benign
rs377337392	4:86,863,421	T/A	—	uncertain significance
rs11097083	4:86,863,467	T/A	—	benign
rs112457617	4:86,893,091	A/G	—	likely benign
rs146311467	4:86,893,204	C/T	—	benign
rs74779744	4:86,893,210	G/A	—	conflicting classifications of pathogenicity
rs187001208	4:86,893,217	C/T	—	uncertain significance
rs2546176680	4:86,893,251	C/T	—	uncertain significance
rs189944282	4:86,893,253	G/C	—	uncertain significance
rs760970265	4:86,893,293	C/T	—	uncertain significance
rs765406736	4:86,893,313	G/A	—	uncertain significance

Showing 100 of 197 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.