ATP2C1

ATPase secretory pathway Ca2+ transporting 1

Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Known Variants180 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs78560773	3:130,569,187	C/T	—	benign
rs1316658	3:130,569,557	G/T	—	benign
rs554783338	3:130,569,726	T/A	—	benign
rs62280751	3:130,585,200	C/A	intron variant	—
rs951311479	3:130,613,362	G/A	—	uncertain significance
rs115940289	3:130,613,377	C/T	—	uncertain significance
rs181664730	3:130,613,401	C/A	—	benign
rs1281629898	3:130,613,524	G/C	—	uncertain significance
rs886057979	3:130,613,548	C/T	—	uncertain significance
rs886057980	3:130,613,550	A/G	—	uncertain significance
rs201306089	3:130,613,581	T/C	—	benign
rs754745816	3:130,613,606	G/A	—	likely benign
rs112703671	3:130,613,634	C/G	—	benign
rs779394828	3:130,649,281	C/T	—	uncertain significance
rs2059404554	3:130,649,294	A/G	—	uncertain significance
rs41266501	3:130,649,377	G/A	—	benign
rs77557042	3:130,649,546	T/C	—	benign
rs864072	3:130,649,697	G/A	—	benign
rs74485483	3:130,650,626	A/G	—	benign
rs774114512	3:130,650,858	T/C	—	likely benign
rs753216597	3:130,650,883	T/C	—	likely benign
rs114371394	3:130,651,000	C/T	—	benign
rs116515829	3:130,651,060	T/C	—	benign
rs2685178	3:130,651,096	T/C	—	benign
rs1543524	3:130,651,297	A/T	—	benign
rs202243057	3:130,653,572	A/G	—	benign
rs567986627	3:130,655,483	C/T	—	—
rs2059719964	3:130,656,282	T/C	—	uncertain significance
rs56070977	3:130,656,526	C/T	—	benign
rs115100623	3:130,659,330	G/A	—	benign
rs73201921	3:130,659,650	A/T	—	benign
rs187057791	3:130,659,781	T/C	—	benign
rs139651279	3:130,660,119	T/C	—	benign
rs2669861	3:130,660,171	C/A	—	benign
rs114146630	3:130,660,275	T/G	—	benign
rs2530630636	3:130,660,435	T/C	—	likely benign
rs776982434	3:130,660,469	C/T	—	pathogenic
rs368726188	3:130,660,498	C/T	—	uncertain significance
rs1239353453	3:130,660,532	C/G	—	uncertain significance
rs559826369	3:130,660,553	G/A	—	benign
rs77864147	3:130,660,808	C/T	—	benign
rs78944711	3:130,661,408	G/A	intron variant	—
rs2669858	3:130,665,531	A/G	intron variant	—
rs770230019	3:130,672,658	C/G	—	uncertain significance
rs886057981	3:130,672,659	C/T	—	uncertain significance
rs1057524846	3:130,672,677	T/C	—	uncertain significance
rs2530843229	3:130,672,696	T/C	—	uncertain significance
rs2530843382	3:130,672,707	A/G	—	uncertain significance
rs2760272	3:130,672,718	T/C	—	benign
rs764052498	3:130,672,726	T/G	—	uncertain significance
rs2060474424	3:130,672,749	A/C	—	uncertain significance
rs200427297	3:130,672,768	C/T	—	conflicting classifications of pathogenicity
rs6810181	3:130,672,769	G/A	—	benign
rs143199078	3:130,673,859	G/A	—	benign
rs1173877573	3:130,673,862	G/A	—	uncertain significance
rs4289320	3:130,673,922	G/T	—	pathogenic
rs218494	3:130,674,022	G/A	—	benign
rs200665127	3:130,674,973	G/A	—	benign
rs116485868	3:130,678,120	A/G	—	benign
rs1349846001	3:130,678,160	C/G	—	uncertain significance
rs1430775611	3:130,678,191	T/C	—	uncertain significance
rs77739355	3:130,678,470	A/C	—	benign
rs2531028773	3:130,682,813	A/T	—	likely pathogenic
rs1559982055	3:130,682,814	G/A	—	pathogenic
rs137853012	3:130,682,825	G/A	missense variant	pathogenic
rs886057982	3:130,682,911	G/A	—	uncertain significance
rs774028528	3:130,682,921	C/T	—	uncertain significance
rs769139552	3:130,682,924	A/G	—	uncertain significance
rs72628534	3:130,682,976	C/T	—	benign
rs76799180	3:130,683,061	A/G	—	benign
rs75320308	3:130,683,684	A/G	—	benign
rs115219328	3:130,683,745	A/G	—	benign
rs1284293568	3:130,683,798	G/A	—	uncertain significance
rs2531051260	3:130,683,811	T/A	—	pathogenic
rs2531052615	3:130,683,884	G/A	—	uncertain significance
rs79540389	3:130,684,038	C/G	—	benign
rs78085608	3:130,684,069	A/G	—	benign
rs2640473	3:130,685,757	T/C	—	benign
rs78938338	3:130,685,790	G/A	—	benign
rs74926099	3:130,685,809	A/C	—	benign
rs218497	3:130,685,846	A/T	—	benign
rs141822193	3:130,686,012	A/G	—	likely benign
rs137896406	3:130,686,014	T/A	—	uncertain significance
rs2531091461	3:130,686,031	G/C	—	uncertain significance
rs1329817993	3:130,686,047	A/G	—	uncertain significance
rs369250519	3:130,686,056	A/G	—	uncertain significance
rs374372080	3:130,686,162	T/C	—	likely benign
rs943896787	3:130,686,216	C/T	—	likely benign
rs115441492	3:130,686,221	G/A	—	uncertain significance
rs2273950	3:130,686,415	T/G	—	benign
rs218498	3:130,686,917	C/T	intron variant	—
rs76951475	3:130,687,957	T/A	—	benign
rs533035827	3:130,688,123	T/C	—	uncertain significance
rs41434650	3:130,688,175	G/A	—	benign
rs2531133399	3:130,688,183	C/A	—	pathogenic
rs2061190842	3:130,688,191	G/C	—	uncertain significance
rs137853013	3:130,688,229	C/T	stop gained	pathogenic
rs775044921	3:130,688,230	G/C	—	uncertain significance
rs137853014	3:130,694,231	G/T	missense variant	pathogenic
rs2531246484	3:130,694,233	A/G	—	uncertain significance

Showing 100 of 180 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.