ATP2A1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

Known Variants705 total

rsidPosition (GRCh37)AllelesClassClinVar
rs993319816:28,888,409C/Tregulatory region variant—
rs388819016:28,889,486C/A—benign
rs7527306916:28,889,971C/T—benign
rs76145566416:28,889,978C/T—uncertain significance
rs20133416816:28,889,981G/A—likely benign
rs155551440416:28,889,986G/A—likely benign
rs37589215916:28,889,991C/T—uncertain significance
rs36868926416:28,889,993A/G—uncertain significance
rs129441793616:28,889,996G/A—uncertain significance
rs131577233416:28,889,998G/A—likely benign
rs102145248116:28,890,001C/T—likely benign
rs132089201716:28,890,033C/A—uncertain significance
rs37108549316:28,890,036A/G—uncertain significance
rs196335138816:28,890,047A/G—uncertain significance
rs102794067216:28,890,050G/A—uncertain significance
rs78068811116:28,890,058G/A—likely benign
rs88605187816:28,890,070G/A—conflicting classifications of pathogenicity
rs76914232316:28,890,073C/G—uncertain significance
rs77707087916:28,890,080A/C—uncertain significance
rs159665831816:28,890,084G/A—uncertain significance
rs140943151116:28,890,090T/A—uncertain significance
rs14155955816:28,890,092G/T—pathogenic
rs20042811316:28,890,101G/A—uncertain significance
rs105752234116:28,890,106C/T—likely benign
rs215219575016:28,890,108A/G—uncertain significance
rs76250147816:28,890,110G/A—uncertain significance
rs99211902616:28,890,111G/A—likely pathogenic
rs6203737116:28,890,131C/A—benign
rs250623451816:28,890,404T/C—likely benign
rs15040316716:28,890,429C/T—uncertain significance
rs75065599716:28,890,430T/C—likely benign
rs250623503716:28,890,457G/A—likely benign
rs8012788516:28,890,543C/G—benign
rs77623538016:28,890,803C/T—likely benign
rs250623874616:28,890,808G/C—likely benign
rs138400742716:28,890,811T/C—likely benign
rs76329232216:28,890,812C/T—likely benign
rs76666997716:28,890,813C/T—likely benign
rs75173122916:28,890,815C/A—likely benign
rs76797479916:28,890,817C/G—likely benign
rs20121281816:28,890,818C/G—likely benign
rs215219677816:28,890,824A/G—uncertain significance
rs77822217516:28,890,829C/G—likely benign
rs75694004616:28,890,835G/A—pathogenic
rs14892542616:28,890,844G/A—conflicting classifications of pathogenicity
rs250623932616:28,890,862C/T—likely benign
rs250623940816:28,890,870T/G—uncertain significance
rs77470845016:28,890,873G/A—uncertain significance
rs155551458716:28,890,880C/A—likely benign
rs215219686016:28,890,883C/G—likely benign
rs215219686616:28,890,885T/G—pathogenic
rs145915670816:28,890,886G/A—likely benign
rs155551459016:28,890,889C/T—likely benign
rs76764865816:28,890,892A/C—likely benign
rs75266937316:28,890,893T/C—uncertain significance
rs250623961116:28,890,894G/A—uncertain significance
rs196339322616:28,890,905G/C—pathogenic
rs117959617716:28,890,909G/A—uncertain significance
rs250623975616:28,890,914G/A—likely benign
rs77214451516:28,892,222C/T—likely benign
rs36916179116:28,892,225C/T—conflicting classifications of pathogenicity
rs250625062216:28,892,257G/A—uncertain significance
rs117426212416:28,892,258G/A—uncertain significance
rs76464021816:28,892,261A/G—uncertain significance
rs14609120416:28,892,267C/T—uncertain significance
rs250625072716:28,892,269A/G—uncertain significance
rs76560220216:28,892,277C/T—likely benign
rs105752293116:28,892,288C/T—conflicting classifications of pathogenicity
rs75074120116:28,892,296A/G—uncertain significance
rs196345525816:28,892,310C/T—likely benign
rs75810481816:28,892,311A/C—uncertain significance
rs36963788116:28,892,312T/C—uncertain significance
rs250625109516:28,892,315C/T—uncertain significance
rs74810827316:28,892,318A/G—uncertain significance
rs250625114316:28,892,323A/G—uncertain significance
rs124732573516:28,892,326G/A—uncertain significance
rs74900105716:28,892,331G/C—likely benign
rs196345651816:28,892,341G/A—pathogenic
rs37345978616:28,892,347G/A—likely benign
rs98655740316:28,892,348T/C—likely benign
rs93409122716:28,892,352C/T—likely benign
rs7279381816:28,893,137G/T——
rs11234878416:28,893,518G/A—benign
rs1164121616:28,893,532A/G—benign
rs749855516:28,893,571T/C—benign
rs77870060516:28,893,752C/T—likely benign
rs156747985316:28,893,770A/T—pathogenic
rs36838825716:28,893,775C/T—uncertain significance
rs76882011016:28,893,776G/A—uncertain significance
rs13933793716:28,893,780C/T—likely benign
rs134921724916:28,893,781G/A—uncertain significance
rs77033503916:28,893,789C/T—likely benign
rs90880346216:28,893,790G/A—uncertain significance
rs121607517216:28,893,795C/T—likely benign
rs77358027816:28,893,796G/A—uncertain significance
rs250625895316:28,893,799G/C—uncertain significance
rs215220014116:28,893,803T/C—uncertain significance
rs56002289516:28,893,808G/A—uncertain significance
rs155551498516:28,893,809A/G—uncertain significance
rs75929283516:28,893,814G/C—uncertain significance

Showing 100 of 705 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.