PPM1K

protein phosphatase, Mg2+/Mn2+ dependent 1K

Summary

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

Known Variants105 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14757196044:89,183,766G/C—uncertain significance
rs24765557194:89,183,770C/A—uncertain significance
rs7463162944:89,183,786T/C—likely benign
rs1492395814:89,183,791A/T—uncertain significance
rs1999043134:89,183,809T/C—uncertain significance
rs1490036374:89,183,811T/C—uncertain significance
rs7593625684:89,183,832G/A—uncertain significance
rs13358660684:89,183,885G/C—uncertain significance
rs24765565294:89,183,893A/T—uncertain significance
rs3744602514:89,186,144C/T—likely benign
rs349818234:89,186,162C/T—benign
rs3687155884:89,186,165C/T—likely benign
rs1424907654:89,186,166G/A—uncertain significance
rs21101546334:89,186,167C/T—uncertain significance
rs17312500184:89,186,169T/C—uncertain significance
rs355235534:89,186,179C/T—benign
rs7794640444:89,186,180G/A—likely benign
rs24765657004:89,186,215T/C—uncertain significance
rs12539186794:89,186,223C/G—uncertain significance
rs15604844234:89,186,252G/A—likely benign
rs1414412214:89,186,282A/C—likely benign
rs13210800964:89,186,296A/C—uncertain significance
rs9425594944:89,189,328A/G—likely benign
rs24765913244:89,189,356T/A—uncertain significance
rs24765920564:89,189,412G/T—uncertain significance
rs1381225274:89,189,418G/A—uncertain significance
rs1495420464:89,189,434C/T—uncertain significance
rs1460161064:89,189,435G/A—likely benign
rs12382380834:89,189,437G/A—uncertain significance
rs10142040024:89,189,464C/T—uncertain significance
rs17314165984:89,189,468A/C—likely benign
rs1926228494:89,189,491T/C—likely benign
rs1497132124:89,189,602G/A—benign
rs623099804:89,189,655C/T—benign
rs3767530824:89,189,878C/T—likely benign
rs3692049214:89,189,886G/A—benign
rs1433632644:89,189,898T/C—likely benign
rs9513341414:89,189,910T/C—likely benign
rs14492304514:89,189,920G/A—uncertain significance
rs1462268444:89,189,930T/C—uncertain significance
rs3714813614:89,189,943G/A—likely benign
rs24765977444:89,189,953T/C—uncertain significance
rs1484229204:89,189,959C/T—uncertain significance
rs775382974:89,189,971C/T—likely benign
rs24765980004:89,189,979C/T—likely benign
rs17314428314:89,189,999G/C—uncertain significance
rs7550629474:89,190,000T/C—likely benign
rs14278544074:89,190,005T/C—uncertain significance
rs2000787684:89,190,008C/A—uncertain significance
rs11757143234:89,190,013C/T—uncertain significance
rs7581298284:89,190,018T/C—likely benign
rs12599222614:89,190,020G/A—likely benign
rs8665941064:89,190,046G/T—uncertain significance
rs3766811404:89,190,058G/A—uncertain significance
rs5342713774:89,190,061A/G—uncertain significance
rs10357587724:89,190,067A/G—likely benign
rs5559160144:89,198,309C/T—conflicting classifications of pathogenicity
rs1509359404:89,198,310G/A—uncertain significance
rs7785808424:89,198,311G/A—likely benign
rs3704836374:89,198,321G/A—uncertain significance
rs7461864574:89,198,326G/A—likely benign
rs7701714654:89,198,327G/T—uncertain significance
rs7686542564:89,198,337T/C—uncertain significance
rs1134365194:89,198,355T/C—likely benign
rs1477348694:89,198,361G/C—uncertain significance
rs17318067404:89,198,367C/T—uncertain significance
rs13585187974:89,198,377C/T—likely benign
rs9601858974:89,198,383A/G—likely benign
rs1425791084:89,199,300T/C—uncertain significance
rs3758205714:89,199,341G/C—uncertain significance
rs10372293054:89,199,346A/G—likely benign
rs3710359114:89,199,348C/T—uncertain significance
rs5554137064:89,199,349G/A—likely benign
rs1816492524:89,199,384C/G—uncertain significance
rs1165641504:89,199,397A/G—benign
rs3710581194:89,199,408G/A—uncertain significance
rs12215273254:89,199,425C/T—uncertain significance
rs3756917384:89,199,428T/C—uncertain significance
rs7637188844:89,199,436C/T—likely benign
rs1172978944:89,199,442G/A—benign
rs1493136254:89,199,444C/T—uncertain significance
rs7527998904:89,199,477T/C—uncertain significance
rs12350366864:89,199,488T/A—uncertain significance
rs24766716944:89,199,500G/A—uncertain significance
rs24766717084:89,199,501G/T—uncertain significance
rs17318738834:89,199,504G/A—uncertain significance
rs12677450984:89,199,509A/G—uncertain significance
rs1460415624:89,199,527C/T—uncertain significance
rs3722053244:89,199,528G/A—uncertain significance
rs3764748654:89,199,548T/C—uncertain significance
rs5696245114:89,199,562T/C—likely benign
rs3677993574:89,199,581G/A—uncertain significance
rs7587276684:89,199,591G/A—uncertain significance
rs21101718114:89,199,618T/G—uncertain significance
rs5370530984:89,199,626G/A—uncertain significance
rs3766554634:89,199,639G/A—uncertain significance
rs1417753364:89,199,646G/A—likely benign
rs3699160094:89,199,659C/T—uncertain significance
rs17318873924:89,199,670C/T—likely benign
rs13696095304:89,199,675C/T—uncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.