IDH3A

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]

Known Variants241 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6200933315:78,441,574C/G—benign
rs135360665715:78,441,747T/C—uncertain significance
rs56609624915:78,441,753G/T—uncertain significance
rs76985117815:78,441,755C/T—uncertain significance
rs77546695515:78,441,756C/T—uncertain significance
rs76278752515:78,441,757C/G—likely benign
rs19985765815:78,441,758G/T—uncertain significance
rs214193466715:78,441,762G/A—pathogenic
rs254883029515:78,441,765T/C—uncertain significance
rs76752933615:78,441,766C/T—likely benign
rs1155554115:78,441,769T/C—benign
rs75417254115:78,441,771A/G—uncertain significance
rs103320788115:78,441,774T/C—likely pathogenic
rs75532950015:78,441,777G/A—uncertain significance
rs75684960115:78,441,783G/T—likely benign
rs128106708815:78,441,785A/G—likely benign
rs92532869715:78,441,786G/T—likely benign
rs74534185215:78,441,788C/A—likely benign
rs124181919215:78,441,791G/T—likely benign
rs93534005615:78,441,792C/G—likely benign
rs11303755515:78,441,886T/G—benign
rs14384887815:78,447,186C/Tintron variant—
rs214194218115:78,447,545A/G—likely benign
rs77224828015:78,447,550T/C—likely benign
rs75015846415:78,447,551A/G—benign
rs76690351515:78,447,562G/A—uncertain significance
rs76725770115:78,447,618G/A—likely pathogenic
rs77986457215:78,447,628T/C—likely benign
rs74919453115:78,447,631T/C—likely benign
rs1163077615:78,447,790C/G—benign
rs1290468815:78,449,748G/C—benign
rs36869903215:78,449,872A/G—likely benign
rs254883496215:78,449,879C/T—likely benign
rs207463448415:78,449,885T/C—likely benign
rs95497253115:78,449,890G/T—uncertain significance
rs207463472015:78,449,905T/G—uncertain significance
rs207463482415:78,449,919T/C—likely benign
rs207463498715:78,449,929C/T—uncertain significance
rs97877425515:78,449,941G/C—uncertain significance
rs254883501515:78,449,950A/G—uncertain significance
rs207463539315:78,449,955G/T—uncertain significance
rs254883502815:78,449,964T/C—likely benign
rs75340776615:78,449,968G/C—uncertain significance
rs76522068415:78,449,982G/A—likely benign
rs207463567515:78,449,983C/T—likely benign
rs207463576015:78,449,990A/C—likely benign
rs6200933915:78,452,244T/C—benign
rs488656015:78,452,296C/T—benign
rs76501268215:78,452,414C/T—likely benign
rs254883646215:78,452,426G/A—likely benign
rs125895172415:78,452,427C/T—likely benign
rs75754905715:78,452,429T/C—likely benign
rs254883647215:78,452,440A/C—uncertain significance
rs14035437215:78,452,444A/T—uncertain significance
rs207466635715:78,452,445G/A—likely benign
rs207466641515:78,452,454G/A—likely benign
rs15036770915:78,452,456G/A—uncertain significance
rs13807968915:78,452,460C/T—likely benign
rs76928367315:78,452,470A/T—uncertain significance
rs214194805915:78,452,474A/C—uncertain significance
rs254883649515:78,452,481T/C—likely benign
rs133812189615:78,452,522T/C—uncertain significance
rs145192419415:78,452,527A/G—uncertain significance
rs140264115715:78,452,532C/T—uncertain significance
rs207466720415:78,452,533A/C—uncertain significance
rs130222176615:78,452,538G/A—uncertain significance
rs36892335915:78,452,551A/G—uncertain significance
rs97139173915:78,452,564A/G—likely benign
rs37681594115:78,452,567C/T—likely benign
rs76399786915:78,452,568G/A—likely benign
rs198224115:78,452,722T/C—benign
rs214129731015:78,453,909C/T—likely benign
rs214129733015:78,453,919A/G—uncertain significance
rs54353171715:78,453,936C/A—likely benign
rs76240365415:78,453,940A/G—uncertain significance
rs207468181315:78,453,944C/T—uncertain significance
rs76405075215:78,453,948C/A—likely benign
rs118981734515:78,453,949G/A—uncertain significance
rs207468195515:78,453,957A/G—likely benign
rs76168622815:78,453,962T/C—uncertain significance
rs207468209015:78,453,972G/A—likely benign
rs75023043815:78,453,996C/T—likely benign
rs75633343015:78,453,997G/A—conflicting classifications of pathogenicity
rs76665771515:78,453,998C/T—uncertain significance
rs147699959215:78,454,002T/C—likely benign
rs75399967615:78,454,006C/T—pathogenic
rs37415278315:78,454,011A/G—likely benign
rs207468254715:78,454,012T/C—uncertain significance
rs77957298015:78,454,020T/C—likely benign
rs20101592715:78,454,023C/T—likely benign
rs37762025615:78,454,047C/T—likely benign
rs74737554915:78,454,048G/A—uncertain significance
rs6175277015:78,454,050T/A—likely benign
rs254883726715:78,454,058T/C—uncertain significance
rs37160416415:78,454,060G/A—uncertain significance
rs254883727815:78,454,071A/C—likely benign
rs76172772715:78,454,077C/T—likely benign
rs207468344415:78,454,096G/T—pathogenic
rs207468349815:78,454,100T/C—uncertain significance
rs76746080215:78,454,126A/T—likely benign

Showing 100 of 241 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.