CD2AP

CD2 associated protein

Summary

This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]

Known Variants306 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs111766401	6:47,445,540	C/A	—	likely benign
rs191920077	6:47,445,543	C/T	—	uncertain significance
rs886061511	6:47,445,652	C/T	—	uncertain significance
rs886061512	6:47,445,657	G/C	—	uncertain significance
rs9369697	6:47,445,684	G/C	—	benign
rs532229799	6:47,445,714	G/A	—	benign
rs886061513	6:47,445,784	C/T	—	uncertain significance
rs1056434	6:47,445,789	A/C	—	benign
rs886061514	6:47,445,790	G/A	—	uncertain significance
rs1003986342	6:47,445,815	A/G	—	uncertain significance
rs886061516	6:47,445,851	C/G	—	uncertain significance
rs946137629	6:47,445,912	C/A	—	uncertain significance
rs9349406	6:47,445,927	T/A	—	benign
rs1561995493	6:47,445,993	C/G	—	likely benign
rs370143870	6:47,446,000	G/A	—	likely benign
rs13214158	6:47,446,246	T/G	—	benign
rs9367279	6:47,448,336	A/G	upstream gene variant	—
rs9349407	6:47,453,378	G/C	upstream gene variant	—
rs1564926	6:47,470,146	T/C	intron variant	—
rs3756935	6:47,470,996	G/A	—	likely benign
rs2481088400	6:47,471,016	T/G	—	uncertain significance
rs572687654	6:47,471,020	C/G	—	uncertain significance
rs1413605047	6:47,471,034	A/G	—	uncertain significance
rs367952819	6:47,471,037	A/G	—	uncertain significance
rs777711947	6:47,471,040	A/G	—	uncertain significance
rs2481088488	6:47,471,041	T/G	—	likely pathogenic
rs34773184	6:47,471,053	T/C	—	likely benign
rs559978848	6:47,471,073	G/A	—	likely benign
rs1766047123	6:47,471,079	G/C	—	uncertain significance
rs1283834941	6:47,471,092	G/T	—	uncertain significance
rs1482597215	6:47,471,129	G/A	—	uncertain significance
rs769243431	6:47,471,140	T/G	—	uncertain significance
rs770594307	6:47,471,153	A/G	—	uncertain significance
rs764144193	6:47,471,171	G/A	—	uncertain significance
rs151118470	6:47,471,175	A/C	—	likely benign
rs368408367	6:47,471,189	A/G	—	likely benign
rs71568416	6:47,474,426	G/C	—	—
rs10948363	6:47,487,762	A/G	intron variant	—
rs77996323	6:47,492,159	G/A	regulatory region variant	—
rs142628238	6:47,501,354	C/T	—	uncertain significance
rs7749045	6:47,501,391	A/G	—	likely benign
rs758523796	6:47,501,393	G/T	—	uncertain significance
rs368795308	6:47,501,422	C/T	—	likely pathogenic
rs371293071	6:47,501,423	G/A	—	uncertain significance
rs771506855	6:47,501,433	C/G	—	likely benign
rs138428273	6:47,501,448	T/C	—	likely benign
rs2114026068	6:47,501,451	A/G	—	likely benign
rs1562020088	6:47,501,455	A/G	—	uncertain significance
rs539471431	6:47,501,469	A/G	—	likely benign
rs374695299	6:47,501,476	A/G	—	uncertain significance
rs149246024	6:47,501,483	T/A	—	uncertain significance
rs79982591	6:47,501,511	C/A	—	likely benign
rs114889123	6:47,501,570	T/C	—	likely benign
rs149512334	6:47,501,647	A/G	—	likely benign
rs7754282	6:47,502,024	G/C	intron variant	—
rs6915993	6:47,512,229	C/T	—	benign
rs1767317688	6:47,512,345	C/T	—	uncertain significance
rs886061518	6:47,512,348	A/G	—	uncertain significance
rs192679464	6:47,512,354	G/A	—	uncertain significance
rs2114045264	6:47,512,379	C/T	—	likely benign
rs2481193074	6:47,512,385	A/G	—	likely benign
rs2481193093	6:47,512,395	G/A	—	uncertain significance
rs747832531	6:47,512,422	A/G	—	uncertain significance
rs886061519	6:47,512,423	T/A	—	uncertain significance
rs6916578	6:47,512,590	C/T	—	benign
rs9473132	6:47,522,357	G/A	intron variant	benign
rs1020810839	6:47,522,377	T/C	—	likely benign
rs560006896	6:47,522,389	A/G	—	uncertain significance
rs527243987	6:47,522,390	A/C	—	uncertain significance
rs777620356	6:47,522,400	A/G	—	uncertain significance
rs145518596	6:47,522,408	C/T	—	likely benign
rs570511925	6:47,522,413	A/G	—	conflicting classifications of pathogenicity
rs747200381	6:47,522,435	C/T	—	likely benign
rs2481221477	6:47,522,448	A/G	—	uncertain significance
rs762020246	6:47,522,482	A/C	—	uncertain significance
rs886061520	6:47,522,491	A/G	—	uncertain significance
rs766983546	6:47,522,516	T/A	—	uncertain significance
rs200598584	6:47,522,521	T/A	—	benign
rs115706515	6:47,522,651	G/A	—	likely benign
rs144321765	6:47,523,586	T/A	—	—
rs9369715	6:47,541,497	T/G	—	benign
rs1768231418	6:47,541,789	T/C	—	uncertain significance
rs138163915	6:47,541,809	T/C	—	uncertain significance
rs142643033	6:47,541,811	G/T	—	conflicting classifications of pathogenicity
rs864622037	6:47,541,818	C/T	—	uncertain significance
rs760110147	6:47,541,836	C/T	—	uncertain significance
rs2481275442	6:47,541,858	T/C	—	likely benign
rs754966889	6:47,541,893	G/T	—	uncertain significance
rs146010044	6:47,541,894	A/T	—	likely benign
rs139926926	6:47,541,918	T/G	—	uncertain significance
rs1582577489	6:47,541,928	T/C	—	uncertain significance
rs908328150	6:47,541,933	G/A	—	uncertain significance
rs150851309	6:47,541,940	C/T	—	conflicting classifications of pathogenicity
rs756790635	6:47,541,941	G/A	—	uncertain significance
rs140627775	6:47,541,954	C/T	—	likely benign
rs1768239059	6:47,541,959	G/C	—	uncertain significance
rs149993734	6:47,541,960	T/A	—	uncertain significance
rs781129940	6:47,541,963	A/G	—	likely benign
rs1388283601	6:47,541,973	A/G	—	uncertain significance
rs756161725	6:47,541,979	C/A	—	uncertain significance

Showing 100 of 306 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.