ARHGAP29

Rho GTPase activating protein 29

Summary

Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

Known Variants105 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs370165174	1:94,639,424	C/G	—	likely benign
rs759862562	1:94,639,450	T/C	—	uncertain significance
rs375753775	1:94,639,452	G/A	—	likely benign
rs529456105	1:94,639,499	T/C	—	uncertain significance
rs761013727	1:94,639,510	T/C	—	uncertain significance
rs1023482155	1:94,639,523	G/A	—	uncertain significance
rs746489015	1:94,639,576	G/T	—	uncertain significance
rs2524178992	1:94,639,624	T/A	—	uncertain significance
rs143262937	1:94,639,845	A/T	—	benign
rs74102117	1:94,639,866	C/T	—	benign
rs79827181	1:94,639,929	A/G	—	benign
rs374847892	1:94,639,976	T/C	—	uncertain significance
rs2524183377	1:94,639,987	T/G	—	uncertain significance
rs750287257	1:94,639,993	T/C	—	uncertain significance
rs761200097	1:94,639,999	C/A	—	uncertain significance
rs138109111	1:94,640,014	C/A	—	uncertain significance
rs141653334	1:94,640,030	C/T	—	uncertain significance
rs777206745	1:94,640,201	T/C	—	uncertain significance
rs376576743	1:94,640,204	T/C	—	uncertain significance
rs774950084	1:94,640,240	T/C	—	uncertain significance
rs146090842	1:94,643,160	C/T	—	likely benign
rs79740616	1:94,643,196	C/T	—	benign
rs377417799	1:94,643,197	G/A	—	uncertain significance
rs113546321	1:94,643,209	C/T	—	likely benign
rs61758881	1:94,643,229	T/G	—	likely benign
rs202125095	1:94,643,269	T/C	—	uncertain significance
rs2524202780	1:94,643,403	C/G	—	uncertain significance
rs745647205	1:94,643,478	T/G	—	uncertain significance
rs779871041	1:94,643,499	A/G	—	uncertain significance
rs2524204760	1:94,643,584	A/T	—	uncertain significance
rs2524205120	1:94,643,628	G/A	—	uncertain significance
rs2524205390	1:94,643,655	A/G	—	uncertain significance
rs776739108	1:94,643,680	A/G	—	likely benign
rs557199577	1:94,643,690	G/A	—	likely benign
rs2524205825	1:94,643,724	C/T	—	likely pathogenic
rs1015955014	1:94,645,327	C/T	—	uncertain significance
rs1239187493	1:94,645,363	G/T	—	uncertain significance
rs775023065	1:94,645,366	T/G	—	uncertain significance
rs41311172	1:94,645,368	C/T	—	likely benign
rs1649347683	1:94,645,446	T/A	—	uncertain significance
rs41311170	1:94,645,488	C/A	—	uncertain significance
rs2524238091	1:94,649,748	A/G	—	uncertain significance
rs1114167282	1:94,650,427	C/T	—	pathogenic
rs2524242150	1:94,650,487	T/C	—	uncertain significance
rs1451917679	1:94,650,494	T/C	—	likely benign
rs748894382	1:94,650,597	C/T	—	uncertain significance
rs1570497770	1:94,650,897	C/T	—	pathogenic
rs750938196	1:94,650,937	A/G	—	likely benign
rs901902219	1:94,650,953	G/A	—	uncertain significance
rs780827479	1:94,651,019	G/A	—	uncertain significance
rs144875752	1:94,652,062	T/C	—	benign
rs867470445	1:94,652,129	C/T	—	uncertain significance
rs747148271	1:94,652,141	C/T	—	uncertain significance
rs760811985	1:94,652,144	T/A	—	uncertain significance
rs771049716	1:94,654,402	T/C	—	uncertain significance
rs372270954	1:94,654,777	A/G	—	likely benign
rs954303155	1:94,654,821	A/G	—	likely benign
rs2524265408	1:94,654,857	G/T	—	likely benign
rs1114167281	1:94,654,873	G/T	—	pathogenic
rs137861305	1:94,654,886	T/C	—	uncertain significance
rs1650037609	1:94,655,512	G/C	—	uncertain significance
rs371413908	1:94,655,540	G/C	—	uncertain significance
rs1650047329	1:94,655,633	C/T	—	uncertain significance
rs779013793	1:94,667,287	T/C	—	uncertain significance
rs148959325	1:94,667,305	C/T	—	benign
rs763118604	1:94,667,317	G/A	—	uncertain significance
rs2524330353	1:94,667,328	A/C	—	uncertain significance
rs148745316	1:94,667,330	T/C	—	likely benign
rs1570528455	1:94,667,369	A/G	—	likely benign
rs750848061	1:94,667,406	T/G	—	uncertain significance
rs755688126	1:94,667,422	A/T	—	likely benign
rs1279695037	1:94,668,155	T/C	—	uncertain significance
rs2524336092	1:94,668,189	C/G	—	uncertain significance
rs863225063	1:94,668,267	T/A	—	uncertain significance
rs2524338198	1:94,668,476	T/C	—	uncertain significance
rs1189420954	1:94,668,500	G/A	—	uncertain significance
rs1008764547	1:94,668,516	C/A	—	uncertain significance
rs1390076216	1:94,668,530	T/C	—	uncertain significance
rs368132743	1:94,668,699	A/G	—	uncertain significance
rs780534478	1:94,668,708	C/T	—	uncertain significance
rs773884869	1:94,668,724	T/C	—	uncertain significance
rs1181867971	1:94,668,760	T/C	—	uncertain significance
rs1114167280	1:94,669,551	C/G	—	pathogenic
rs1316363661	1:94,670,611	A/T	—	uncertain significance
rs766873724	1:94,670,669	C/A	—	uncertain significance
rs537507050	1:94,670,674	T/C	—	uncertain significance
rs142196186	1:94,670,725	C/T	—	likely benign
rs766318204	1:94,674,381	A/G	—	likely benign
rs142062583	1:94,674,409	C/T	—	likely benign
rs779009673	1:94,674,413	C/T	—	uncertain significance
rs770046057	1:94,674,447	G/A	—	uncertain significance
rs550560986	1:94,674,467	A/G	—	likely benign
rs2274788	1:94,674,726	T/C	intron variant	—
rs1182349707	1:94,674,828	G/A	—	uncertain significance
rs864309588	1:94,674,889	C/A	—	uncertain significance
rs764782951	1:94,674,896	G/A	—	likely benign
rs75088623	1:94,680,185	A/G	intron variant	—
rs1207730905	1:94,685,825	G/T	—	uncertain significance
rs769366932	1:94,685,828	G/T	—	uncertain significance
rs183410431	1:94,685,903	C/T	—	benign

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.