BCKDK

branched chain keto acid dehydrogenase kinase

Summary

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants131 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77543076216:31,120,554G/C—uncertain significance
rs75337844916:31,120,559G/C—likely benign
rs76465176316:31,120,575C/T—uncertain significance
rs141482877516:31,120,578G/A—uncertain significance
rs74866602516:31,120,582G/C—uncertain significance
rs74946768716:31,120,591C/T—uncertain significance
rs11330459816:31,120,598G/A—likely benign
rs77534097116:31,120,610A/T—likely benign
rs52799917616:31,120,622G/C—likely benign
rs76489104516:31,120,623C/T—uncertain significance
rs76248278816:31,120,630C/T—uncertain significance
rs89685736216:31,120,661C/G—uncertain significance
rs93373543016:31,120,664G/A—likely benign
rs205739080916:31,120,716G/A—uncertain significance
rs7353021116:31,120,725G/T—likely benign
rs159680816316:31,120,737A/G—uncertain significance
rs146731851416:31,120,749G/A—likely benign
rs254414487716:31,120,828C/T—likely benign
rs19997468316:31,120,832C/T—uncertain significance
rs14307227216:31,120,855C/G—likely benign
rs13882104316:31,120,885C/A—uncertain significance
rs14193831016:31,120,898C/T—likely benign
rs254414507916:31,120,901G/C—pathogenic
rs14474757816:31,121,001C/T—uncertain significance
rs254414534716:31,121,018G/A—uncertain significance
rs55625512316:31,121,034T/C—uncertain significance
rs214393917516:31,121,070T/C—uncertain significance
rs74645900616:31,121,076T/C—uncertain significance
rs159680872116:31,121,086C/A—uncertain significance
rs205739491716:31,121,093A/G—uncertain significance
rs14811268216:31,121,101C/T—likely benign
rs14128241916:31,121,102G/A—uncertain significance
rs75977944616:31,121,118G/A—likely benign
rs142709232816:31,121,385C/T—likely benign
rs254414652616:31,121,406A/G—likely benign
rs205739804016:31,121,419T/C—uncertain significance
rs76182236216:31,121,432C/A—uncertain significance
rs254414689416:31,121,506C/T—likely benign
rs205739885616:31,121,508T/C—likely benign
rs76536773316:31,121,520C/G—uncertain significance
rs214394043816:31,121,525G/T—uncertain significance
rs37156914716:31,121,535C/T—likely pathogenic
rs75556271916:31,121,544G/A—uncertain significance
rs36952168916:31,121,555C/G—likely pathogenic
rs39751457316:31,121,568C/Gmissense variantuncertain significance
rs254414713316:31,121,588C/A—uncertain significance
rs78026144816:31,121,590A/G—uncertain significance
rs205739995216:31,121,602C/A—uncertain significance
rs77337854516:31,121,615G/A—uncertain significance
rs76277406316:31,121,618C/A—likely benign
rs205740013816:31,121,621A/G—likely benign
rs77430225116:31,121,631C/T—uncertain significance
rs37095084916:31,121,712C/T—benign
rs133708915116:31,121,714C/G—likely benign
rs77421486916:31,121,730G/C—uncertain significance
rs77530429316:31,121,733C/T—likely benign
rs18809282316:31,121,734G/A—uncertain significance
rs90582536716:31,121,737C/T—uncertain significance
rs75851055116:31,121,739C/A—likely benign
rs76132279116:31,121,741A/G—uncertain significance
rs55395649116:31,121,765C/T—uncertain significance
rs15077352116:31,121,766G/A—likely benign
rs214394135816:31,121,769G/T—uncertain significance
rs1423516:31,121,793G/A—benign
rs76836508316:31,121,804C/T—uncertain significance
rs254414801616:31,121,830T/A—likely benign
rs139716772116:31,122,011T/G—likely benign
rs36804063516:31,122,020C/T—likely benign
rs55463188416:31,122,035T/C—uncertain significance
rs76251515116:31,122,036C/T—uncertain significance
rs14721040516:31,122,037G/Cmissense variantpathogenic
rs20068954516:31,122,058T/C—uncertain significance
rs214394213416:31,122,060G/A—uncertain significance
rs76451453416:31,122,069G/C—uncertain significance
rs72750382316:31,122,092G/C—uncertain significance
rs123544987416:31,122,100C/T—likely benign
rs154929616:31,122,229C/T—benign
rs20121374116:31,122,397C/T—likely benign
rs129198190816:31,122,407C/T—likely benign
rs20004533716:31,122,408G/A—likely benign
rs37412167916:31,122,416C/T—conflicting classifications of pathogenicity
rs37735111816:31,122,438A/G—uncertain significance
rs254414973116:31,122,443C/T—uncertain significance
rs205740951616:31,122,488A/C—uncertain significance
rs5588479216:31,122,517G/A—likely benign
rs144050907416:31,122,546G/A—likely benign
rs7401506816:31,122,550C/T—benign
rs88955516:31,122,571C/T—benign
rs14093897216:31,122,613C/T—likely benign
rs11804273216:31,122,618T/A—uncertain significance
rs76085110016:31,122,622G/A—uncertain significance
rs37107896616:31,122,626C/T—uncertain significance
rs98975794216:31,122,654C/A—likely pathogenic
rs254415027816:31,122,671T/G—uncertain significance
rs20116459716:31,122,679A/G—uncertain significance
rs20025397216:31,122,692A/G—uncertain significance
rs75813721616:31,123,179C/A—likely benign
rs37467765016:31,123,180A/G—likely benign
rs105752258116:31,123,197G/C—uncertain significance
rs99999805016:31,123,214C/T—likely benign

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.