PFKM

phosphofructokinase, muscle

Summary

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

Known Variants780 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14089585612:48,499,898C/T—likely benign
rs476061912:48,499,931A/T—benign
rs7878292212:48,500,864C/G—benign
rs54694398912:48,500,867A/T—likely benign
rs75509432912:48,501,157A/G—uncertain significance
rs1160939912:48,501,161A/T—benign
rs77479004112:48,501,168C/T—likely benign
rs19329831712:48,501,209G/T—uncertain significance
rs144378610212:48,501,217G/A—uncertain significance
rs1049208012:48,501,411A/G—benign
rs194686964612:48,501,952G/T—likely benign
rs37185740612:48,501,987G/A—likely benign
rs11162983312:48,502,032A/C—likely benign
rs72545412:48,502,100A/G—benign
rs7310208012:48,502,143G/A—likely benign
rs98125314912:48,512,261C/T—likely benign
rs476068212:48,512,285C/A—benign
rs95662278112:48,512,344A/G—likely benign
rs7851281412:48,513,021G/C—uncertain significance
rs88604945112:48,513,022C/T—uncertain significance
rs76587619512:48,513,024G/A—uncertain significance
rs4129195912:48,513,027C/A—likely benign
rs1230629012:48,513,086T/G—benign
rs88634595812:48,513,133C/A—uncertain significance
rs88604945212:48,513,134C/T—uncertain significance
rs95248551712:48,513,181G/C—uncertain significance
rs5837324212:48,513,275A/G—benign
rs7264484712:48,516,093C/A—benign
rs476068312:48,516,296T/C—benign
rs226993512:48,516,464G/T—benign
rs11128292112:48,516,546C/T—likely benign
rs55944304012:48,516,548A/G—likely pathogenic
rs15127928012:48,516,562C/T—uncertain significance
rs254076464412:48,516,566T/C—likely benign
rs254076478812:48,516,572G/A—likely benign
rs213786008512:48,516,575C/T—likely benign
rs254076484412:48,516,577A/G—uncertain significance
rs213786014412:48,516,578T/C—likely benign
rs194841747712:48,516,591C/T—likely benign
rs76586804012:48,516,593G/A—likely benign
rs75219377212:48,516,595G/A—uncertain significance
rs14047367212:48,516,598T/C—conflicting classifications of pathogenicity
rs15040505612:48,516,609A/G—uncertain significance
rs75599254312:48,516,616T/C—uncertain significance
rs99571791112:48,516,623C/G—likely benign
rs194842234112:48,516,628G/C—uncertain significance
rs254076593412:48,516,631G/T—uncertain significance
rs130007969912:48,516,643G/A—likely pathogenic
rs77203809912:48,516,650G/T—likely benign
rs77796088212:48,516,651G/A—likely benign
rs254076648912:48,516,653G/C—likely benign
rs74717129012:48,516,655G/A—likely benign
rs18132535212:48,523,528T/Aintron variant—
rs7565012112:48,524,092G/T—benign
rs115848960612:48,524,132G/T—likely benign
rs143455846012:48,524,138C/T—likely benign
rs254085393712:48,524,141T/C—likely benign
rs75482664312:48,524,145G/C—likely pathogenic
rs76523866212:48,524,146G/A—uncertain significance
rs213584186012:48,524,153T/C—likely benign
rs75740858812:48,524,158C/T—uncertain significance
rs105752204812:48,524,163A/C—likely benign
rs194934613212:48,524,168T/C—likely benign
rs144943315112:48,524,174T/C—likely benign
rs106479574912:48,524,175C/Tstop gainedpathogenic
rs12191819312:48,524,176G/Cmissense variantpathogenic
rs75644266312:48,524,183T/C—likely benign
rs118185570212:48,524,189C/T—likely benign
rs78024062412:48,524,192C/T—likely benign
rs56964652312:48,524,193G/A—uncertain significance
rs141315767412:48,524,198C/T—likely benign
rs77492197912:48,524,199C/T—uncertain significance
rs74871804912:48,524,200G/A—uncertain significance
rs130198318812:48,524,207C/T—likely benign
rs254085521512:48,524,210T/C—likely benign
rs14518564012:48,524,216T/C—likely benign
rs130570630412:48,524,220G/T—likely pathogenic
rs77275206312:48,524,229G/A—likely benign
rs194935614412:48,524,230T/C—likely benign
rs144865221412:48,524,233T/C—likely benign
rs128359492012:48,524,235T/C—likely benign
rs7408911212:48,524,308C/A—benign
rs5989693512:48,524,794T/G—benign
rs147660712:48,524,804A/G—benign
rs7643758412:48,524,839A/G—likely benign
rs5669241112:48,524,870A/G—benign
rs11617210512:48,525,055A/G—likely benign
rs194945325412:48,525,081G/A—likely benign
rs194945379712:48,525,083A/G—likely benign
rs254086906612:48,525,085A/G—likely benign
rs77266406312:48,525,086A/G—uncertain significance
rs77042769712:48,525,088G/C—likely benign
rs254086927012:48,525,095A/G—likely benign
rs128206575412:48,525,098G/C—likely pathogenic
rs213585671112:48,525,104T/A—pathogenic
rs254086943212:48,525,105C/T—likely pathogenic
rs194945690912:48,525,110C/A—likely benign
rs76294236612:48,525,123G/T—likely pathogenic
rs75047118412:48,525,125A/C—likely benign
rs254087003112:48,525,128T/G—uncertain significance

Showing 100 of 780 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.