ATP6V1E1

ATPase H+ transporting V1 subunit E1

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3532	22:18,075,263	T/C	—	benign
rs2229563	22:18,075,417	G/A	—	benign
rs370717993	22:18,075,447	A/G	—	uncertain significance
rs2518018734	22:18,075,464	A/G	—	likely benign
rs758154929	22:18,075,469	C/T	—	uncertain significance
rs1028534806	22:18,075,487	G/A	missense variant	pathogenic
rs374129845	22:18,075,505	G/A	—	uncertain significance
rs2518018809	22:18,075,511	A/G	—	likely benign
rs1410982060	22:18,075,517	T/C	—	likely benign
rs73876475	22:18,075,532	A/G	—	likely benign
rs116828335	22:18,075,654	C/T	—	likely benign
rs144179905	22:18,075,686	T/C	—	benign
rs146558925	22:18,075,711	G/A	—	likely benign
rs1296818	22:18,075,747	G/A	—	likely benign
rs143950098	22:18,075,764	C/T	—	likely benign
rs372524876	22:18,077,279	G/A	—	likely benign
rs76360481	22:18,077,280	T/C	—	benign
rs2057721375	22:18,077,305	A/G	—	uncertain significance
rs757617918	22:18,077,306	T/C	—	uncertain significance
rs1342192072	22:18,077,321	T/A	—	uncertain significance
rs76511316	22:18,077,334	G/A	—	benign
rs77950405	22:18,077,335	G/C	—	uncertain significance
rs1489592862	22:18,077,350	C/T	—	uncertain significance
rs2518020589	22:18,077,352	A/G	—	likely benign
rs768892237	22:18,077,362	T/C	—	likely benign
rs1569200838	22:18,077,386	C/A	—	likely benign
rs2057722054	22:18,077,397	G/A	—	likely benign
rs116576310	22:18,077,443	T/C	—	benign
rs75514826	22:18,077,543	G/A	—	likely benign
rs5747247	22:18,077,640	T/C	—	benign
rs73391485	22:18,080,723	A/G	—	benign
rs74276486	22:18,080,732	C/T	—	benign
rs57754481	22:18,080,830	T/C	—	benign
rs1056645568	22:18,080,944	C/T	—	likely benign
rs73391487	22:18,080,962	G/A	—	likely benign
rs779066391	22:18,080,974	G/A	—	likely benign
rs748321704	22:18,080,976	A/G	—	uncertain significance
rs550630159	22:18,081,006	C/T	—	uncertain significance
rs769849183	22:18,081,007	G/A	—	likely benign
rs1569202316	22:18,081,013	G/A	—	likely benign
rs2518023791	22:18,081,025	G/A	—	likely benign
rs200844005	22:18,081,046	C/G	—	likely benign
rs200423618	22:18,081,051	C/T	—	uncertain significance
rs369727709	22:18,081,064	T/C	—	likely benign
rs1484392163	22:18,081,071	C/T	—	likely benign
rs74795219	22:18,081,093	C/A	—	benign
rs2287228	22:18,081,136	A/G	—	benign
rs2072555	22:18,081,156	T/G	—	benign
rs5992073	22:18,081,350	T/C	—	benign
rs8137221	22:18,082,602	A/G	—	benign
rs558206153	22:18,082,615	C/T	—	likely benign
rs545510398	22:18,082,649	G/A	—	likely benign
rs5992075	22:18,082,669	A/G	—	benign
rs5992076	22:18,082,708	A/C	—	benign
rs182783274	22:18,082,734	G/C	—	likely benign
rs201960147	22:18,082,784	G/A	—	likely benign
rs200504228	22:18,082,793	C/T	—	uncertain significance
rs201028167	22:18,082,816	T/G	—	uncertain significance
rs771516354	22:18,082,823	A/G	—	likely benign
rs377047811	22:18,082,824	C/T	—	uncertain significance
rs775186565	22:18,082,825	G/A	—	uncertain significance
rs144829775	22:18,082,836	C/T	—	uncertain significance
rs1060505031	22:18,082,845	A/G	missense variant	pathogenic
rs201700749	22:18,082,846	G/C	—	uncertain significance
rs746489312	22:18,082,865	G/A	—	conflicting classifications of pathogenicity
rs2518026138	22:18,082,881	C/A	—	likely benign
rs60335616	22:18,082,999	G/A	—	benign
rs142085257	22:18,083,061	G/T	—	likely benign
rs5747251	22:18,083,167	C/T	—	benign
rs714504	22:18,083,591	T/C	—	benign
rs718296	22:18,083,737	G/T	—	benign
rs1388515850	22:18,083,838	G/T	—	likely benign
rs780952475	22:18,083,844	G/T	—	likely benign
rs199542694	22:18,083,847	T/C	—	likely benign
rs770127750	22:18,083,882	C/T	—	likely benign
rs1490168998	22:18,083,883	A/T	—	uncertain significance
rs763506307	22:18,083,897	T/C	—	likely benign
rs368549409	22:18,083,898	G/T	—	uncertain significance
rs1441893334	22:18,083,942	T/C	—	likely benign
rs2518027172	22:18,083,946	T/A	—	uncertain significance
rs114135569	22:18,083,979	A/G	—	likely benign
rs5747254	22:18,084,001	T/G	—	benign
rs3747023	22:18,084,033	C/T	—	benign
rs192672612	22:18,084,172	A/C	—	likely benign
rs5747268	22:18,095,312	C/T	—	benign
rs79852314	22:18,095,439	G/C	—	benign
rs111674457	22:18,095,571	T/C	—	likely benign
rs1171206832	22:18,095,581	G/A	—	likely benign
rs922849937	22:18,095,598	C/T	—	uncertain significance
rs147042004	22:18,095,609	T/C	—	likely benign
rs78475231	22:18,095,617	C/T	—	likely benign
rs759972810	22:18,095,624	T/C	—	uncertain significance
rs767653911	22:18,095,640	T/A	—	uncertain significance
rs757172751	22:18,095,654	G/A	—	likely benign
rs2057822451	22:18,095,659	T/G	—	likely benign
rs5992080	22:18,095,734	C/G	—	benign
rs3747024	22:18,095,838	A/G	—	benign
rs7284200	22:18,095,879	C/T	—	benign
rs3747025	22:18,095,901	T/C	—	benign
rs73876477	22:18,095,919	G/A	—	likely benign

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.