AP2M1

adaptor related protein complex 2 subunit mu 1

Summary

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Known Variants207 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376237979	3:183,894,779	G/A	—	likely benign
rs1715096206	3:183,894,811	C/T	—	likely benign
rs1322170364	3:183,894,817	G/A	—	likely benign
rs2231214	3:183,894,823	G/C	—	likely benign
rs1329096115	3:183,894,829	C/T	—	likely benign
rs2109028353	3:183,894,831	C/T	—	likely benign
rs757550426	3:183,894,836	G/A	—	uncertain significance
rs2473715472	3:183,894,849	A/C	—	uncertain significance
rs2109028363	3:183,894,854	G/A	—	uncertain significance
rs2109028371	3:183,894,861	T/C	—	uncertain significance
rs746308252	3:183,894,862	C/T	—	likely benign
rs772599064	3:183,894,869	C/T	—	likely benign
rs766817198	3:183,895,340	G/T	—	likely benign
rs752060957	3:183,895,364	T/C	—	likely benign
rs118022228	3:183,895,368	T/C	—	benign
rs533163564	3:183,896,002	G/A	—	likely benign
rs555780261	3:183,896,625	T/G	—	likely benign
rs199638962	3:183,896,626	A/G	—	benign
rs1054162515	3:183,896,627	T/C	—	likely benign
rs373489563	3:183,896,636	T/C	—	likely benign
rs766742290	3:183,896,638	C/A	—	likely benign
rs751993161	3:183,896,639	C/T	—	likely benign
rs914732362	3:183,896,640	C/T	—	likely benign
rs2231216	3:183,896,641	C/T	—	benign
rs556633717	3:183,896,651	C/T	—	benign
rs1346365411	3:183,896,654	A/G	—	likely benign
rs2473719280	3:183,896,667	C/T	—	uncertain significance
rs1159187719	3:183,896,674	A/G	—	uncertain significance
rs2473719291	3:183,896,675	T/C	—	likely benign
rs1167948297	3:183,896,688	C/T	—	uncertain significance
rs747675284	3:183,896,699	G/T	—	likely benign
rs1431035134	3:183,896,700	C/T	—	uncertain significance
rs755622712	3:183,896,708	C/T	—	likely benign
rs148249373	3:183,896,714	C/T	—	likely benign
rs774293277	3:183,896,742	G/A	—	uncertain significance
rs2473719485	3:183,896,768	A/G	—	likely benign
rs1344972426	3:183,896,769	G/A	—	conflicting classifications of pathogenicity
rs562501180	3:183,896,786	T/C	—	likely benign
rs775327824	3:183,896,792	C/T	—	likely benign
rs761946127	3:183,896,793	G/T	—	uncertain significance
rs11539598	3:183,896,807	C/T	—	likely benign
rs2109029641	3:183,896,808	G/A	—	uncertain significance
rs1463334055	3:183,896,813	C/T	—	likely benign
rs1577058498	3:183,896,825	G/A	—	uncertain significance
rs2473719612	3:183,896,827	G/A	—	uncertain significance
rs560148625	3:183,896,831	C/T	—	benign
rs1577058512	3:183,896,834	G/T	—	likely benign
rs1715180354	3:183,896,836	T/G	—	uncertain significance
rs2473719639	3:183,896,851	G/T	—	uncertain significance
rs2473719648	3:183,896,856	A/G	—	uncertain significance
rs2473719654	3:183,896,859	A/G	—	uncertain significance
rs2473719658	3:183,896,860	G/A	—	uncertain significance
rs2109029680	3:183,896,871	A/G	—	uncertain significance
rs1300678467	3:183,896,919	G/A	—	likely benign
rs375760613	3:183,896,921	C/T	—	benign
rs370947653	3:183,896,922	G/A	—	likely benign
rs2231217	3:183,896,966	A/G	—	benign
rs843368	3:183,897,625	C/T	intron variant	—
rs1368926753	3:183,897,939	G/T	—	likely benign
rs1262605702	3:183,897,941	T/C	—	likely benign
rs1286558153	3:183,897,948	T/C	—	likely benign
rs375602236	3:183,897,949	T/G	—	likely benign
rs2109030512	3:183,897,969	T/A	—	uncertain significance
rs758422622	3:183,897,970	T/C	—	likely benign
rs2473721911	3:183,897,978	C/G	—	uncertain significance
rs1011510763	3:183,897,988	C/T	—	likely benign
rs1041547140	3:183,897,998	G/A	—	uncertain significance
rs753193214	3:183,898,000	G/A	—	likely benign
rs201806475	3:183,898,001	C/T	—	likely benign
rs2473721952	3:183,898,010	T/A	—	uncertain significance
rs538802066	3:183,898,012	C/T	—	benign
rs756877807	3:183,898,017	C/T	—	likely benign
rs368318270	3:183,898,018	G/A	—	likely benign
rs142792134	3:183,898,021	G/A	—	likely benign
rs372570685	3:183,898,043	C/A	—	conflicting classifications of pathogenicity
rs115561047	3:183,898,046	G/A	—	likely benign
rs2473721998	3:183,898,051	G/T	—	likely benign
rs2473722001	3:183,898,056	G/T	—	likely benign
rs2473722006	3:183,898,059	T/C	—	likely benign
rs751405928	3:183,898,413	G/T	—	likely benign
rs2473722815	3:183,898,415	T/C	—	likely benign
rs1342408172	3:183,898,421	T/C	—	likely benign
rs757273499	3:183,898,423	C/T	—	likely benign
rs2473722832	3:183,898,424	G/A	—	uncertain significance
rs1390046310	3:183,898,427	C/T	—	likely benign
rs772648593	3:183,898,441	A/G	—	conflicting classifications of pathogenicity
rs1715244436	3:183,898,444	C/G	—	uncertain significance
rs926795618	3:183,898,451	C/A	—	likely benign
rs2473723411	3:183,898,623	C/T	—	likely benign
rs1267702671	3:183,898,630	C/G	—	likely benign
rs759194826	3:183,898,631	A/C	—	likely benign
rs550065852	3:183,898,645	A/G	—	likely benign
rs375328073	3:183,898,651	G/A	—	likely benign
rs1407472608	3:183,898,666	C/G	—	uncertain significance
rs2473723507	3:183,898,668	A/G	—	uncertain significance
rs2473723578	3:183,898,683	T/C	—	uncertain significance
rs932364883	3:183,898,684	T/G	—	likely benign
rs1577059692	3:183,898,715	C/T	—	pathogenic
rs2109031049	3:183,898,736	G/T	—	likely benign
rs2473723667	3:183,898,745	A/T	—	uncertain significance

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.