PPP3CA

protein phosphatase 3 catalytic subunit alpha

Summary

Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; negative regulation of angiotensin-activated signaling pathway; and peptidyl-serine dephosphorylation. Located in cytoplasm; cytoplasmic side of plasma membrane; and dendritic spine. Part of calcineurin complex. Implicated in developmental and epileptic encephalopathy 91. Biomarker of cholangiocarcinoma; focal segmental glomerulosclerosis; and schizophrenia. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants372 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10420944:101,946,948T/C—benign
rs1123034744:101,947,014G/A—benign
rs1140656814:101,947,015T/G—benign
rs9545457784:101,947,025C/T—likely benign
rs24761969804:101,947,028A/C—uncertain significance
rs7531545364:101,947,029A/C—uncertain significance
rs7633178024:101,947,037G/A—likely benign
rs21102004404:101,947,044C/T—likely benign
rs24761970474:101,947,049A/G—likely benign
rs1998749154:101,947,050T/C—conflicting classifications of pathogenicity
rs5565790334:101,947,058C/T—likely benign
rs7811814144:101,947,059G/A—conflicting classifications of pathogenicity
rs11711778324:101,947,060T/A—uncertain significance
rs24761971104:101,947,061G/A—uncertain significance
rs7504888274:101,947,063C/T—uncertain significance
rs7561106494:101,947,064G/A—likely benign
rs24761971704:101,947,075A/G—uncertain significance
rs7491798354:101,947,079G/A—likely benign
rs24761972814:101,947,091G/A—likely benign
rs17266268664:101,947,096A/T—uncertain significance
rs12224513664:101,947,097G/T—uncertain significance
rs24761973034:101,947,098T/A—uncertain significance
rs17266272394:101,947,099T/A—uncertain significance
rs7685764824:101,947,104T/C—uncertain significance
rs7788484314:101,947,108C/A—uncertain significance
rs7478702704:101,947,109G/A—likely benign
rs17266286424:101,947,111C/T—likely pathogenic
rs7726992764:101,947,115G/C—likely benign
rs24761973764:101,947,119A/G—uncertain significance
rs12969409074:101,947,131C/T—uncertain significance
rs1512916654:101,947,136C/T—likely benign
rs3681951624:101,947,155C/T—uncertain significance
rs11969541634:101,947,160T/C—likely benign
rs24761974534:101,947,161A/G—uncertain significance
rs1405179204:101,947,163G/A—likely benign
rs24761974674:101,947,167T/G—uncertain significance
rs15605673374:101,947,171C/T—pathogenic
rs24761974824:101,947,172T/C—likely benign
rs24761974924:101,947,177C/T—uncertain significance
rs17266315814:101,947,178G/C—uncertain significance
rs15605673474:101,947,180A/G—pathogenic
rs24761975214:101,947,191T/G—uncertain significance
rs2009008794:101,947,199T/C—likely benign
rs24761975554:101,947,200G/C—uncertain significance
rs1504238454:101,947,202T/C—likely benign
rs21102006014:101,947,226G/C—uncertain significance
rs24762030644:101,950,305G/C—likely benign
rs24762030684:101,950,306G/A—likely benign
rs7774954934:101,950,308G/T—likely benign
rs17268029514:101,950,310C/G—likely benign
rs7465724514:101,950,314C/G—likely benign
rs17268036534:101,950,326C/A—pathogenic
rs13179478344:101,950,327A/G—likely benign
rs7761031204:101,950,330A/G—likely benign
rs24762031204:101,950,332C/A—uncertain significance
rs7498401244:101,950,338T/C—uncertain significance
rs24762031374:101,950,339A/G—likely benign
rs13300731564:101,950,340G/A—uncertain significance
rs7691226484:101,950,342C/T—uncertain significance
rs24762031534:101,950,353C/G—pathogenic
rs15539201884:101,950,354T/C—pathogenic
rs3719484124:101,950,367G/A—likely benign
rs7677207324:101,950,372T/C—likely benign
rs100196854:101,950,536A/C—benign
rs28510604:101,953,322T/C—benign
rs24762098464:101,953,405T/C—likely benign
rs13566106534:101,953,408C/T—likely benign
rs21102051464:101,953,414G/A—likely benign
rs15539203744:101,953,424C/T—pathogenic
rs5706394854:101,953,425G/A—likely benign
rs15539203764:101,953,430G/A—pathogenic
rs24762100064:101,953,449A/G—likely benign
rs7568787504:101,953,452A/G—likely benign
rs3693181944:101,953,461G/T—uncertain significance
rs24762100534:101,953,462C/G—uncertain significance
rs17270040364:101,953,471A/G—uncertain significance
rs5378341734:101,953,497C/T—likely benign
rs7454162204:101,953,498G/A—uncertain significance
rs12200886114:101,953,503C/T—likely benign
rs24762101864:101,953,515C/T—likely benign
rs21102052434:101,953,518T/G—uncertain significance
rs24762102014:101,953,528G/A—likely benign
rs24762102274:101,953,534A/C—uncertain significance
rs5687326194:101,953,538G/T—likely benign
rs7500241604:101,961,620A/G—likely benign
rs2022228384:101,961,622A/G—likely benign
rs7794265824:101,961,626C/T—likely benign
rs3737846984:101,961,627G/A—likely benign
rs14059738484:101,961,632C/T—likely benign
rs21102108884:101,961,636C/A—uncertain significance
rs21102108894:101,961,640T/C—likely pathogenic
rs3694765374:101,961,641G/A—likely benign
rs13337433994:101,961,653C/G—likely benign
rs24762243934:101,961,655C/T—uncertain significance
rs7473986344:101,961,656T/C—likely benign
rs17274671784:101,961,662C/T—uncertain significance
rs24762244624:101,961,672A/G—uncertain significance
rs13144782464:101,961,674T/C—likely benign
rs24762244684:101,961,675G/A—uncertain significance
rs21102109174:101,961,677T/G—likely benign

Showing 100 of 372 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.