ATP4A

ATPase H+/K+ transporting subunit alpha

Summary

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]

Known Variants137 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2514736344	19:36,041,562	G/A	—	likely benign
rs773459189	19:36,041,750	C/T	—	uncertain significance
rs1428090470	19:36,041,753	A/G	—	uncertain significance
rs141390472	19:36,041,797	G/A	—	likely benign
rs751271471	19:36,041,916	T/C	—	uncertain significance
rs2514736934	19:36,041,957	C/T	—	uncertain significance
rs149744668	19:36,041,959	C/T	—	benign
rs778844114	19:36,041,970	C/G	—	uncertain significance
rs200663366	19:36,041,988	C/T	—	uncertain significance
rs182431649	19:36,042,333	G/A	—	benign
rs769093964	19:36,042,383	G/A	—	uncertain significance
rs1277801129	19:36,042,398	G/C	—	uncertain significance
rs762946363	19:36,042,402	A/T	—	uncertain significance
rs756224829	19:36,042,470	G/A	—	uncertain significance
rs148399014	19:36,042,821	A/G	downstream gene variant	—
rs141068186	19:36,043,924	C/T	—	likely benign
rs150321750	19:36,043,977	G/T	—	likely benign
rs137947088	19:36,044,007	C/T	—	uncertain significance
rs2514739104	19:36,044,049	A/G	—	uncertain significance
rs2251124	19:36,044,524	G/A	intron variant	—
rs200090220	19:36,044,597	C/T	—	likely benign
rs746843751	19:36,044,617	A/G	—	uncertain significance
rs145740755	19:36,044,658	C/T	—	uncertain significance
rs112570205	19:36,044,743	T/C	—	benign
rs61746955	19:36,045,875	G/A	—	benign
rs777723789	19:36,045,945	A/G	—	uncertain significance
rs150792532	19:36,045,965	G/A	—	benign
rs751024992	19:36,045,983	G/A	—	likely benign
rs1382227785	19:36,046,152	C/T	—	uncertain significance
rs146535206	19:36,046,171	G/A	—	likely benign
rs1227300022	19:36,046,181	T/C	—	uncertain significance
rs755428118	19:36,046,347	G/A	—	uncertain significance
rs776225963	19:36,046,392	G/A	—	uncertain significance
rs1372933155	19:36,046,401	C/G	—	uncertain significance
rs200522604	19:36,046,408	G/A	—	benign
rs150964145	19:36,046,429	G/A	—	benign
rs1354006829	19:36,046,439	G/A	—	uncertain significance
rs61729956	19:36,046,460	T/A	—	likely benign
rs561359329	19:36,046,485	G/A	—	uncertain significance
rs80198561	19:36,046,567	G/T	—	benign
rs145767701	19:36,046,581	C/A	—	uncertain significance
rs138654635	19:36,046,582	G/A	—	uncertain significance
rs61736770	19:36,046,598	G/A	—	benign
rs752094325	19:36,046,605	C/T	—	uncertain significance
rs757758386	19:36,046,606	G/A	—	uncertain significance
rs753426264	19:36,046,637	G/A	—	likely benign
rs61749491	19:36,047,827	G/A	—	benign
rs762433608	19:36,047,832	G/A	—	uncertain significance
rs773568287	19:36,047,856	C/T	—	uncertain significance
rs766648576	19:36,047,865	G/A	—	uncertain significance
rs759126953	19:36,047,880	T/C	—	uncertain significance
rs61745100	19:36,047,932	T/C	—	benign
rs200791532	19:36,047,937	C/T	—	uncertain significance
rs2514742962	19:36,047,987	A/C	—	uncertain significance
rs529383614	19:36,048,570	G/T	—	benign
rs113375843	19:36,048,575	G/A	—	likely benign
rs777090356	19:36,048,577	C/T	—	uncertain significance
rs369168553	19:36,048,597	G/T	—	likely benign
rs2071639625	19:36,048,646	T/C	—	uncertain significance
rs139397080	19:36,048,661	C/T	—	likely benign
rs2071639753	19:36,048,665	A/G	—	uncertain significance
rs780338130	19:36,048,728	C/T	—	uncertain significance
rs748995904	19:36,048,736	G/T	—	uncertain significance
rs2230181	19:36,048,741	T/G	—	benign
rs572627521	19:36,048,759	G/C	—	uncertain significance
rs541563848	19:36,048,760	G/C	—	likely benign
rs909067	19:36,048,764	G/A	—	benign
rs145047297	19:36,049,259	A/C	—	benign
rs150040599	19:36,049,278	T/G	—	likely benign
rs201223266	19:36,049,303	T/A	—	uncertain significance
rs2514745063	19:36,049,308	G/T	—	uncertain significance
rs142110899	19:36,049,336	G/A	—	benign
rs144295630	19:36,049,394	A/T	—	uncertain significance
rs756885561	19:36,049,484	G/A	—	uncertain significance
rs780600333	19:36,049,493	C/G	—	uncertain significance
rs755561994	19:36,049,500	C/G	—	uncertain significance
rs751932885	19:36,049,571	A/T	—	uncertain significance
rs200972944	19:36,049,588	C/T	—	uncertain significance
rs201466490	19:36,049,903	T/C	—	uncertain significance
rs141100442	19:36,049,961	T/C	—	uncertain significance
rs2514746272	19:36,049,964	G/A	—	uncertain significance
rs2514746317	19:36,049,993	G/C	—	uncertain significance
rs112315890	19:36,050,037	G/A	—	benign
rs748539056	19:36,050,039	T/C	—	uncertain significance
rs1293515862	19:36,050,075	C/T	—	uncertain significance
rs369127243	19:36,050,691	G/A	—	likely benign
rs374657696	19:36,050,700	C/T	—	likely benign
rs775185676	19:36,050,748	C/T	—	uncertain significance
rs201382109	19:36,050,783	G/C	—	uncertain significance
rs61730200	19:36,050,796	A/C	—	uncertain significance
rs368547129	19:36,050,807	A/G	—	uncertain significance
rs1317479978	19:36,050,832	T/C	—	uncertain significance
rs140861099	19:36,050,865	C/T	—	uncertain significance
rs147230647	19:36,050,866	G/A	—	likely benign
rs539010027	19:36,050,897	T/C	—	uncertain significance
rs369405068	19:36,050,904	C/T	—	uncertain significance
rs140284450	19:36,050,925	G/C	—	uncertain significance
rs368041237	19:36,050,943	C/G	—	uncertain significance
rs2733743	19:36,050,969	G/A	—	benign
rs138829362	19:36,050,971	G/A	—	likely benign

Showing 100 of 137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.