AGAP1

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Summary

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Known Variants259 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1941231138	2:236,403,343	C/G	—	uncertain significance
rs1941231795	2:236,403,354	C/A	—	likely benign
rs762472578	2:236,403,366	C/T	—	likely benign
rs1418853145	2:236,403,370	C/T	—	uncertain significance
rs374694232	2:236,403,371	G/A	—	uncertain significance
rs2469780138	2:236,403,406	A/G	—	uncertain significance
rs1941236421	2:236,403,437	G/A	—	uncertain significance
rs745570362	2:236,403,439	G/T	—	uncertain significance
rs8178993	2:236,403,462	C/T	—	benign
rs1255540343	2:236,403,484	G/T	—	uncertain significance
rs144345823	2:236,403,486	C/T	—	likely benign
rs200114461	2:236,403,497	A/T	—	uncertain significance
rs2469780544	2:236,403,505	G/C	—	likely benign
rs201403330	2:236,403,511	T/C	—	benign
rs6431393	2:236,539,307	A/G	intron variant	—
rs7590181	2:236,573,580	G/A	intron variant	—
rs1137686	2:236,586,227	A/G	intron variant	—
rs139732607	2:236,602,504	C/T	intron variant	—
rs2545686263	2:236,617,804	G/C	—	likely benign
rs2545686330	2:236,617,809	C/T	—	likely benign
rs1411490765	2:236,617,812	C/G	—	likely benign
rs755003432	2:236,617,824	T/C	—	likely benign
rs2545686476	2:236,617,828	T/A	—	uncertain significance
rs141190791	2:236,617,830	C/T	—	likely benign
rs776418772	2:236,617,835	A/G	—	uncertain significance
rs765880203	2:236,617,862	C/T	—	uncertain significance
rs139445824	2:236,617,868	C/T	—	uncertain significance
rs8178995	2:236,617,869	G/A	—	benign
rs752777269	2:236,617,877	A/G	—	uncertain significance
rs769040477	2:236,617,885	A/G	—	uncertain significance
rs1245582557	2:236,617,901	C/T	—	likely benign
rs551715041	2:236,626,184	G/C	—	likely benign
rs188361326	2:236,626,187	C/T	—	benign
rs201400274	2:236,626,225	G/A	—	likely benign
rs1407019943	2:236,626,233	T/G	—	likely benign
rs770429082	2:236,626,257	G/A	—	likely benign
rs1261973395	2:236,626,265	A/G	—	uncertain significance
rs754799559	2:236,649,628	T/C	—	uncertain significance
rs756920826	2:236,649,637	A/T	—	uncertain significance
rs1450273587	2:236,649,664	G/T	—	uncertain significance
rs144424571	2:236,649,671	A/G	—	benign
rs140458133	2:236,649,689	G/T	—	benign
rs758794882	2:236,653,367	T/C	—	uncertain significance
rs778196676	2:236,653,369	T/G	—	uncertain significance
rs1459658965	2:236,653,372	G/A	—	uncertain significance
rs770964719	2:236,653,383	G/A	—	likely benign
rs141449009	2:236,653,414	C/T	—	uncertain significance
rs538844406	2:236,653,427	G/A	—	uncertain significance
rs765881581	2:236,653,439	A/G	—	uncertain significance
rs753542683	2:236,653,441	C/T	—	uncertain significance
rs144494543	2:236,653,449	G/A	—	benign
rs1952803417	2:236,653,467	T/C	—	likely benign
rs1952803881	2:236,653,479	C/T	—	likely benign
rs575855431	2:236,653,487	A/G	—	uncertain significance
rs776154968	2:236,659,020	G/A	—	likely benign
rs375739545	2:236,659,026	C/G	—	likely benign
rs576969179	2:236,659,029	C/T	—	likely benign
rs200056479	2:236,659,030	G/A	—	uncertain significance
rs143378661	2:236,659,033	G/A	—	uncertain significance
rs148699717	2:236,659,035	C/T	—	likely benign
rs367559858	2:236,659,036	G/A	—	conflicting classifications of pathogenicity
rs142209544	2:236,659,059	C/T	—	likely benign
rs560372408	2:236,659,083	C/T	—	likely benign
rs149931123	2:236,659,089	G/A	—	likely benign
rs182163679	2:236,659,101	C/T	—	likely benign
rs112666282	2:236,659,110	T/C	—	benign
rs760978302	2:236,659,139	G/A	—	likely benign
rs552465885	2:236,659,143	G/A	—	likely benign
rs566592993	2:236,671,705	C/G	—	—
rs2696405	2:236,672,106	T/C	regulatory region variant	—
rs72977127	2:236,681,671	T/C	downstream gene variant	—
rs779477468	2:236,706,390	G/T	—	likely benign
rs376009688	2:236,706,440	G/A	—	likely benign
rs1575492330	2:236,706,443	G/A	—	likely benign
rs752735364	2:236,706,448	T/C	—	uncertain significance
rs148389075	2:236,706,449	A/G	—	uncertain significance
rs184273490	2:236,706,467	A/G	—	benign
rs150458947	2:236,706,491	C/T	—	likely benign
rs367742479	2:236,706,492	G/A	—	uncertain significance
rs538546799	2:236,706,500	C/T	—	likely benign
rs375060286	2:236,706,518	G/A	—	likely benign
rs563209639	2:236,706,519	C/T	—	likely benign
rs761411781	2:236,706,549	G/A	—	likely benign
rs1188253749	2:236,707,991	T/A	—	likely benign
rs562548507	2:236,708,004	A/T	—	likely benign
rs753970882	2:236,708,008	C/T	—	uncertain significance
rs201953851	2:236,708,013	A/G	—	likely benign
rs774442441	2:236,708,024	G/T	—	uncertain significance
rs552995872	2:236,708,053	G/A	—	uncertain significance
rs369599695	2:236,708,058	A/G	—	benign
rs757248532	2:236,708,072	C/A	—	uncertain significance
rs112968637	2:236,708,089	C/A	—	benign
rs763294074	2:236,708,118	G/T	—	likely benign
rs982745709	2:236,708,124	G/A	—	likely benign
rs767939918	2:236,708,128	G/A	—	uncertain significance
rs750448988	2:236,708,131	C/T	—	uncertain significance
rs141716710	2:236,708,138	A/G	—	uncertain significance
rs1435028150	2:236,708,147	G/A	—	uncertain significance
rs754181254	2:236,708,150	G/A	—	uncertain significance
rs2292708	2:236,708,166	C/T	—	benign

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.