SERPINF2

serpin family F member 2

Summary

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs721293617:1,646,651A/Cregulatory region variant—
rs207086217:1,648,294C/T—benign
rs76737048117:1,648,325G/C—uncertain significance
rs117304702217:1,648,466C/T—uncertain significance
rs76436923417:1,648,483C/T—likely benign
rs207086317:1,648,502C/Tmissense variantbenign
rs19968684417:1,648,512T/G—likely benign
rs20133955117:1,648,622C/T—likely benign
rs20088560317:1,648,625A/G—likely pathogenic
rs18502571017:1,648,635C/T—likely benign
rs98063691717:1,648,640C/T—uncertain significance
rs13988506117:1,648,641G/A—likely benign
rs20026360417:1,648,996C/T—likely benign
rs75458463717:1,649,006C/G—uncertain significance
rs3525915917:1,649,022C/T—benign
rs77295954817:1,649,032C/A—uncertain significance
rs13904372917:1,649,060C/A—uncertain significance
rs133523224117:1,649,084C/G—uncertain significance
rs36953211817:1,649,087G/A—likely benign
rs77726558117:1,649,193C/A—uncertain significance
rs14250247317:1,649,197G/A—conflicting classifications of pathogenicity
rs750395217:1,649,259G/Cintron variant—
rs750172917:1,649,267A/G—benign
rs750175017:1,649,365A/Gintron variant—
rs452552617:1,650,125T/G——
rs650293517:1,650,168C/T—benign
rs18643273717:1,650,357G/A—benign
rs124853568417:1,650,417G/A—uncertain significance
rs14169626317:1,650,418G/A—likely benign
rs14365142117:1,650,419C/T—uncertain significance
rs134524751417:1,650,443G/A—uncertain significance
rs54186922617:1,650,462C/T—likely benign
rs74771040717:1,650,597G/A—likely benign
rs102028080517:1,650,672C/T—uncertain significance
rs159732586417:1,650,694G/A—likely benign
rs90965355717:1,650,773G/C—uncertain significance
rs15036938317:1,650,790C/T—likely benign
rs13809766017:1,650,791G/A—uncertain significance
rs5623013517:1,651,018C/T—benign
rs227769517:1,651,780A/G—benign
rs20154276217:1,651,901G/A—conflicting classifications of pathogenicity
rs14482474117:1,651,988G/A—conflicting classifications of pathogenicity
rs37442281617:1,651,991C/T—uncertain significance
rs13858069217:1,651,998G/A—likely benign
rs20024037117:1,652,028G/T—uncertain significance
rs254396059317:1,652,032C/G—uncertain significance
rs479028617:1,652,483T/Aintron variant—
rs7921153017:1,655,924T/G—benign
rs14449656717:1,655,948C/T—likely benign
rs73606017:1,656,215G/A—benign
rs36804845617:1,657,409T/C—likely benign
rs119878408317:1,657,435G/C—uncertain significance
rs127011891117:1,657,448C/T—uncertain significance
rs14839505717:1,657,459C/T—likely benign
rs20191509517:1,657,513C/G—uncertain significance
rs15068869517:1,657,516G/A—likely benign
rs14481962717:1,657,531G/A—likely benign
rs254344183817:1,657,544A/T—uncertain significance
rs12196506217:1,657,583G/Amissense variantpathogenic
rs75943874417:1,657,639C/T—likely benign
rs105733517:1,657,653G/Amissense variantbenign
rs5736059817:1,657,703C/T—likely benign
rs36796430717:1,657,736G/A—uncertain significance
rs37101390617:1,657,737G/C—likely benign
rs75580929717:1,657,745C/T—uncertain significance
rs14489092017:1,657,748G/A—conflicting classifications of pathogenicity
rs130774438617:1,657,812T/C—uncertain significance
rs105735517:1,657,899T/G—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.