PRF1

perforin 1

Summary

This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]

Known Variants557 total

rsidPosition (GRCh37)AllelesClassClinVar
rs91737368110:72,357,094A/G—uncertain significance
rs88604710610:72,357,145T/C—uncertain significance
rs53080367910:72,357,250A/C—uncertain significance
rs184814086410:72,357,269A/G—uncertain significance
rs19322101010:72,357,288G/T—uncertain significance
rs88604710710:72,357,323A/G—uncertain significance
rs37506600010:72,357,368C/T—uncertain significance
rs19181600210:72,357,433C/T—uncertain significance
rs14624538010:72,357,442C/T—uncertain significance
rs13929815710:72,357,443G/A—likely benign
rs121955382410:72,357,616T/C—uncertain significance
rs57346873710:72,357,633T/A—uncertain significance
rs7451353510:72,357,635A/G—likely benign
rs5674363310:72,357,670G/T—benign
rs88604710810:72,357,697C/T—uncertain significance
rs188949010:72,357,713C/T—benign
rs648045910:72,357,720G/A—benign
rs14095684210:72,357,763A/G—uncertain significance
rs76850569810:72,357,817C/T—uncertain significance
rs77328933210:72,357,818G/A—likely benign
rs148383268910:72,357,827C/G—likely benign
rs142190061910:72,357,829G/A—uncertain significance
rs55079990510:72,357,841G/C—uncertain significance
rs76784871710:72,357,848C/T—likely benign
rs213247482110:72,357,851A/G—likely benign
rs14977612110:72,357,857T/C—conflicting classifications of pathogenicity
rs86818793810:72,357,862G/A—uncertain significance
rs158923164010:72,357,866A/G—likely benign
rs105549615510:72,357,872C/G—likely benign
rs139912404910:72,357,875G/A—likely benign
rs131792260210:72,357,883C/T—uncertain significance
rs249348183710:72,357,887T/G—likely benign
rs135076039610:72,357,888C/T—uncertain significance
rs184815402910:72,357,892G/T—uncertain significance
rs249348189510:72,357,911A/G—likely benign
rs14708710710:72,357,917G/C—likely benign
rs37716245410:72,357,919G/A—uncertain significance
rs120293505910:72,357,935A/T—uncertain significance
rs249348198310:72,357,937G/C—uncertain significance
rs184815493710:72,357,949A/G—uncertain significance
rs77985598010:72,357,958C/A—pathogenic
rs170261695210:72,357,965A/G—likely benign
rs184815515510:72,357,966C/A—uncertain significance
rs20058915210:72,357,976G/A—uncertain significance
rs249348211810:72,357,980C/G—uncertain significance
rs184815563610:72,357,985C/A—uncertain significance
rs184815572710:72,357,987C/G—uncertain significance
rs184815594610:72,358,000G/A—uncertain significance
rs14496860310:72,358,004A/G—likely benign
rs132426134010:72,358,006C/T—likely pathogenic
rs75972758510:72,358,007G/A—likely benign
rs146843963110:72,358,023T/C—uncertain significance
rs77587501310:72,358,027C/T—uncertain significance
rs249348224010:72,358,029C/T—pathogenic
rs127849499910:72,358,031G/C—likely benign
rs76096279610:72,358,033C/A—uncertain significance
rs249348225610:72,358,034C/T—likely benign
rs76459609410:72,358,035T/G—conflicting classifications of pathogenicity
rs91153377210:72,358,037C/T—likely benign
rs213247507010:72,358,043C/T—likely benign
rs76245780610:72,358,047G/A—uncertain significance
rs102393424710:72,358,048G/T—uncertain significance
rs14569522110:72,358,049C/A—likely benign
rs37766509610:72,358,050C/T—uncertain significance
rs77958422510:72,358,053C/T—uncertain significance
rs213247511210:72,358,059G/C—uncertain significance
rs116307243910:72,358,064G/C—likely benign
rs14304053510:72,358,066G/A—uncertain significance
rs184815735510:72,358,067C/G—likely benign
rs249348242610:72,358,079A/G—likely benign
rs249348243610:72,358,085C/T—likely benign
rs75460285110:72,358,087G/A—uncertain significance
rs74597055810:72,358,088C/T—likely benign
rs156472365310:72,358,092G/T—pathogenic
rs249348247510:72,358,094C/T—likely pathogenic
rs77228190310:72,358,099T/C—uncertain significance
rs222801910:72,358,100G/A—likely benign
rs77709401510:72,358,112G/T—uncertain significance
rs14186431510:72,358,120C/T—likely benign
rs76585817810:72,358,121G/A—likely benign
rs77278594110:72,358,124G/A—likely benign
rs20031249610:72,358,127C/T—conflicting classifications of pathogenicity
rs18965089010:72,358,128G/A—pathogenic
rs213247524610:72,358,130C/T—likely benign
rs14551323210:72,358,138C/G—uncertain significance
rs75116174210:72,358,140T/Gmissense variantpathogenic
rs184815885010:72,358,142G/A—likely benign
rs75471125610:72,358,143C/T—uncertain significance
rs249348264410:72,358,145A/C—likely benign
rs127935882610:72,358,153A/G—uncertain significance
rs140221288310:72,358,154G/A—likely benign
rs184815915510:72,358,155A/G—uncertain significance
rs76718945410:72,358,160C/T—likely benign
rs143197235110:72,358,163A/T—pathogenic
rs75252328710:72,358,164T/C—uncertain significance
rs13812691210:72,358,167G/A—conflicting classifications of pathogenicity
rs20016708010:72,358,172C/T—conflicting classifications of pathogenicity
rs2893337610:72,358,173G/Amissense variantpathogenic
rs249348277310:72,358,187G/A—likely benign
rs145111443810:72,358,189C/A—likely pathogenic

Showing 100 of 557 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.