PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

Summary

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

Known Variants1,003 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74297:151,253,226C/T—benign
rs12070573147:151,253,244C/T—uncertain significance
rs8675022517:151,253,257A/C—conflicting classifications of pathogenicity
rs1999734527:151,253,266A/C—uncertain significance
rs8860620957:151,253,275A/C—uncertain significance
rs755129927:151,253,323C/T—uncertain significance
rs5524113447:151,253,334A/T—uncertain significance
rs8860620967:151,253,400C/T—uncertain significance
rs8860620977:151,253,452A/G—uncertain significance
rs18038068317:151,253,516G/A—uncertain significance
rs5670581707:151,253,673T/A—conflicting classifications of pathogenicity
rs3714049607:151,253,675C/T—uncertain significance
rs781928837:151,253,715C/T—likely benign
rs10519567:151,253,765A/C—benign
rs18038561147:151,253,816A/G—uncertain significance
rs177149477:151,253,835A/G—likely benign
rs18038591947:151,253,837A/G—uncertain significance
rs9512311577:151,253,868G/A—uncertain significance
rs1121793327:151,253,888C/T—likely benign
rs12323868947:151,253,889G/A—uncertain significance
rs754184467:151,253,903G/A—likely benign
rs8860620987:151,253,922C/T—conflicting classifications of pathogenicity
rs8860620997:151,253,937G/T—uncertain significance
rs5315190117:151,253,986T/C—benign
rs18038890037:151,254,031A/C—uncertain significance
rs287639977:151,254,131T/C—uncertain significance
rs1849323117:151,254,152A/G—conflicting classifications of pathogenicity
rs1897879637:151,254,160G/C—conflicting classifications of pathogenicity
rs89617:151,254,175T/C—benign
rs1417818277:151,254,231C/T—likely benign
rs3716370247:151,254,232G/A—conflicting classifications of pathogenicity
rs7755353247:151,254,269C/T—benign
rs1811097997:151,254,281C/T—likely benign
rs5380720437:151,254,282G/A—likely benign
rs1132349877:151,254,284C/T—likely benign
rs1995592057:151,254,285G/A—conflicting classifications of pathogenicity
rs21509577867:151,254,289A/C—uncertain significance
rs18039344857:151,254,290C/T—likely benign
rs7308809837:151,254,292C/T—uncertain significance
rs1381676757:151,254,293C/T—likely benign
rs5405250017:151,254,294G/A—conflicting classifications of pathogenicity
rs25361905537:151,254,299T/G—likely benign
rs7633315327:151,254,304C/G—uncertain significance
rs25361906117:151,254,308T/C—likely benign
rs18039377387:151,254,309T/C—uncertain significance
rs3975172677:151,254,310G/A—uncertain significance
rs25361906787:151,254,311T/C—likely benign
rs617447607:151,254,316C/T—uncertain significance
rs15631202877:151,254,319C/T—uncertain significance
rs3715439897:151,254,321G/A—conflicting classifications of pathogenicity
rs5541843987:151,254,325G/A—likely benign
rs2018264537:151,254,328G/A—likely benign
rs25361908147:151,254,330T/C—likely benign
rs18039438487:151,254,332G/A—likely benign
rs7684102937:151,254,333A/G—benign
rs2002626207:151,254,337T/C—likely benign
rs1426536167:151,254,443A/G—benign
rs69451037:151,254,576T/C—benign
rs1491119817:151,257,333T/G—likely benign
rs1178351277:151,257,489A/T—likely benign
rs752731497:151,257,524A/G—likely benign
rs2011646147:151,257,592C/T—likely benign
rs7610122857:151,257,594G/C—likely benign
rs7667450877:151,257,599C/A—likely benign
rs3699650197:151,257,600A/G—likely benign
rs18046925317:151,257,605T/C—conflicting classifications of pathogenicity
rs18046932017:151,257,612G/A—uncertain significance
rs21509713557:151,257,619T/G—uncertain significance
rs13077948777:151,257,620G/T—likely benign
rs25362313257:151,257,622G/C—uncertain significance
rs15631311287:151,257,625T/A—uncertain significance
rs13187366687:151,257,626C/G—likely benign
rs3744763637:151,257,629G/A—likely benign
rs21509714477:151,257,630G/T—uncertain significance
rs13357655647:151,257,633T/C—uncertain significance
rs21509714827:151,257,637G/A—likely benign
rs7521989137:151,257,640T/G—uncertain significance
rs7308809827:151,257,642T/Gmissense variantuncertain significance
rs3764507057:151,257,644C/T—likely benign
rs15631313097:151,257,645G/A—conflicting classifications of pathogenicity
rs2676069797:151,257,646A/Gmissense variantpathogenic
rs7641987777:151,257,647C/A—likely benign
rs7514783827:151,257,649G/C—uncertain significance
rs15849124137:151,257,651G/C—uncertain significance
rs18047029817:151,257,653A/G—likely benign
rs18047038887:151,257,657A/G—uncertain significance
rs25362321787:151,257,658T/A—uncertain significance
rs12584975967:151,257,659A/T—likely benign
rs25362323297:151,257,661C/A—uncertain significance
rs7570479657:151,257,663A/G—uncertain significance
rs287639987:151,257,665A/G—benign
rs13815679967:151,257,667T/C—uncertain significance
rs11966489057:151,257,668A/G—likely benign
rs14180884507:151,257,669C/T—conflicting classifications of pathogenicity
rs18047092827:151,257,670T/C—uncertain significance
rs18047098627:151,257,673C/T—uncertain significance
rs3688529037:151,257,674T/C—likely benign
rs7736416467:151,257,683T/C—likely benign
rs25362330347:151,257,685C/T—uncertain significance
rs18047175417:151,257,692C/G—likely benign

Showing 100 of 1,003 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.