PC

pyruvate carboxylase

Summary

This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,139 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18986304011:66,615,997G/A—uncertain significance
rs55759581911:66,616,017T/C—uncertain significance
rs88604855311:66,616,167A/G—uncertain significance
rs55363025111:66,616,182C/T—uncertain significance
rs57366799311:66,616,185C/T—uncertain significance
rs88604855411:66,616,209G/A—uncertain significance
rs4550570111:66,616,264A/C—benign
rs56116921211:66,616,269C/T—uncertain significance
rs18615256711:66,616,281C/T—conflicting classifications of pathogenicity
rs194529594111:66,616,282C/T—uncertain significance
rs75186180911:66,616,327G/A—uncertain significance
rs4550189411:66,616,355C/T—conflicting classifications of pathogenicity
rs5803272211:66,616,357G/A—benign
rs14498234811:66,616,376G/A—conflicting classifications of pathogenicity
rs92416046811:66,616,379C/T—likely benign
rs139541242811:66,616,381C/T—uncertain significance
rs138696112011:66,616,385G/A—likely benign
rs87925535111:66,616,387T/G—uncertain significance
rs213578199711:66,616,388G/A—likely benign
rs56892501911:66,616,393C/Tmissense variantpathogenic
rs76362352611:66,616,394G/A—likely benign
rs130912273011:66,616,403C/T—likely benign
rs213578219411:66,616,406T/C—likely benign
rs14759499611:66,616,410A/G—conflicting classifications of pathogenicity
rs194530285511:66,616,411T/C—uncertain significance
rs76296511411:66,616,414C/A—likely benign
rs249537342411:66,616,415C/T—likely benign
rs213578228811:66,616,418G/C—likely benign
rs19022330211:66,616,424A/G—conflicting classifications of pathogenicity
rs249537370811:66,616,429C/T—uncertain significance
rs57612698911:66,616,430C/T—likely benign
rs75143210511:66,616,432T/C—conflicting classifications of pathogenicity
rs249537381911:66,616,433G/T—likely benign
rs14905469811:66,616,434C/T—uncertain significance
rs14377787511:66,616,435G/A—uncertain significance
rs116666683411:66,616,444C/T—uncertain significance
rs37328782311:66,616,445C/G—conflicting classifications of pathogenicity
rs19964036311:66,616,450T/C—likely benign
rs57151307411:66,616,454T/A—likely benign
rs130461641011:66,616,457G/C—likely benign
rs136325487611:66,616,460C/G—likely benign
rs194530580511:66,616,463C/T—likely benign
rs129856904211:66,616,465C/A—uncertain significance
rs135837404511:66,616,466A/G—likely benign
rs20179625211:66,616,472C/A—conflicting classifications of pathogenicity
rs121270160411:66,616,475C/T—likely benign
rs105752011711:66,616,478C/A—uncertain significance
rs213578292911:66,616,493A/G—likely benign
rs11399414811:66,616,497——pathogenic
rs77792707011:66,616,498G/C—conflicting classifications of pathogenicity
rs74724437411:66,616,502C/T—likely benign
rs77682518311:66,616,508C/T—conflicting classifications of pathogenicity
rs55391494111:66,616,511G/C—likely benign
rs98853170111:66,616,513C/A—uncertain significance
rs11651802211:66,616,516C/T—conflicting classifications of pathogenicity
rs20016690111:66,616,517C/T—likely benign
rs249537865911:66,616,518T/C—likely benign
rs76157868111:66,616,520G/C—likely benign
rs14111831411:66,616,521G/A—likely benign
rs14516727611:66,616,523C/T—likely benign
rs13899090411:66,616,524C/G—uncertain significance
rs20021738011:66,616,527G/A—uncertain significance
rs75320169711:66,616,529C/G—likely benign
rs194531179711:66,616,532C/G—likely benign
rs194531249211:66,616,538G/A—likely benign
rs74596125711:66,616,543C/G—uncertain significance
rs76993067111:66,616,547C/T—likely benign
rs96093807811:66,616,550C/T—likely benign
rs124069130311:66,616,555C/T—uncertain significance
rs213578397811:66,616,563G/A—uncertain significance
rs14197873111:66,616,565C/T—likely benign
rs14849249411:66,616,566G/A—conflicting classifications of pathogenicity
rs76980148411:66,616,570C/T—uncertain significance
rs77619641111:66,616,571G/A—likely benign
rs76471708211:66,616,579C/T—uncertain significance
rs20208552911:66,616,580C/T—likely benign
rs249538185211:66,616,583C/T—likely benign
rs75891177811:66,616,586G/A—likely benign
rs213578425111:66,616,589C/T—likely benign
rs249538226111:66,616,591T/A—pathogenic
rs249538237511:66,616,595G/A—likely benign
rs75197728211:66,616,598C/T—likely benign
rs78157110911:66,616,610G/A—likely benign
rs52941102311:66,616,628C/G—likely benign
rs213578457311:66,616,629A/G—likely benign
rs249538407711:66,616,630G/A—likely benign
rs249538426411:66,616,635G/A—likely benign
rs75630960811:66,616,638G/A—likely benign
rs75071227811:66,616,681G/A—likely benign
rs75643629011:66,616,684C/T—likely benign
rs159111026911:66,616,685C/G—likely benign
rs98222545711:66,616,687G/A—likely benign
rs88904786611:66,616,688G/A—likely benign
rs37361906811:66,616,689G/C—likely benign
rs78009037111:66,616,690G/T—likely benign
rs249538671311:66,616,691G/A—likely benign
rs123304453411:66,616,692A/T—likely benign
rs213578531911:66,616,693G/A—likely benign
rs194532379211:66,616,696A/G—uncertain significance
rs75396134311:66,616,697A/G—conflicting classifications of pathogenicity

Showing 100 of 1,139 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.