TPK1

thiamin pyrophosphokinase 1

Summary

The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]

Known Variants231 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14049800517:144,150,655T/C—uncertain significance
rs14319322827:144,150,664G/C—uncertain significance
rs20544349047:144,150,666A/G—uncertain significance
rs7492950137:144,150,669G/T—uncertain significance
rs7483072567:144,150,670G/A—uncertain significance
rs20544376577:144,150,683C/T—likely benign
rs5506396177:144,150,693A/T—uncertain significance
rs21288729887:144,150,694C/T—uncertain significance
rs15871465197:144,150,698A/G—likely benign
rs1130563577:144,150,701C/T—likely benign
rs5688042177:144,150,703C/A—uncertain significance
rs7638963517:144,150,704G/A—likely benign
rs3684587687:144,150,706C/Gmissense variantpathogenic
rs1135368477:144,150,707G/A—likely benign
rs7503225237:144,150,708T/C—uncertain significance
rs25468893147:144,150,713A/G—likely benign
rs3712710547:144,150,714T/Cmissense variantpathogenic
rs25468894047:144,150,723C/T—uncertain significance
rs25468894207:144,150,725G/A—likely benign
rs7790482947:144,150,728C/T—likely benign
rs13480050637:144,150,731T/C—likely benign
rs5481158847:144,150,746C/T—likely benign
rs7780112817:144,150,749A/G—likely benign
rs7472626517:144,150,750T/A—conflicting classifications of pathogenicity
rs20544492447:144,150,756G/A—uncertain significance
rs7768744127:144,150,757C/T—pathogenic
rs25468899297:144,150,767A/G—likely benign
rs7702699727:144,150,771G/T—likely benign
rs7751270147:144,150,774A/G—likely benign
rs7795140477:144,150,775A/G—likely benign
rs69538077:144,150,838G/C—benign
rs794646007:144,150,996T/G—benign
rs102537577:144,184,002T/Cintron variant—
rs1383047177:144,228,152C/T—likely benign
rs1428831357:144,228,160G/A—benign
rs3694218377:144,228,186A/T—likely benign
rs360007977:144,235,517C/Aintron variant—
rs69538707:144,245,276C/A—benign
rs69732067:144,245,320A/C—benign
rs7603986977:144,245,583C/G—pathogenic
rs9075950947:144,245,604G/A—uncertain significance
rs15545232247:144,245,621A/C—likely pathogenic
rs25475202867:144,245,622C/T—uncertain significance
rs20637200837:144,245,631C/T—uncertain significance
rs25475204867:144,245,632C/A—pathogenic
rs25475205087:144,245,633A/G—likely benign
rs13857508387:144,245,635C/G—uncertain significance
rs14412189837:144,245,638G/A—uncertain significance
rs20637211117:144,245,642A/G—likely benign
rs7594640817:144,245,645G/C—likely benign
rs7516361317:144,245,651C/G—uncertain significance
rs10060327787:144,245,659C/T—uncertain significance
rs7676631477:144,245,662C/G—uncertain significance
rs20637244547:144,245,665T/A—uncertain significance
rs15881418217:144,245,667C/A—uncertain significance
rs11965243377:144,245,669A/G—likely benign
rs12850114027:144,245,679T/G—uncertain significance
rs20637264937:144,245,685C/G—uncertain significance
rs3717017027:144,245,687G/C—uncertain significance
rs25475215037:144,245,690C/T—likely benign
rs21291650087:144,245,698G/A—uncertain significance
rs21291650217:144,245,704G/T—likely benign
rs793349647:144,288,420G/A—likely benign
rs20699719697:144,288,500T/G—likely benign
rs1996572177:144,288,502C/T—likely benign
rs20699740447:144,288,504C/T—likely benign
rs5284456787:144,288,507T/G—likely benign
rs25478424057:144,288,509G/T—likely benign
rs21508271327:144,288,511C/T—uncertain significance
rs3751695797:144,288,512T/Asplice region variantpathogenic
rs21508272497:144,288,515C/A—likely pathogenic
rs3749460487:144,288,526A/G—uncertain significance
rs15545622967:144,288,528G/A—likely benign
rs10377804587:144,288,529T/C—uncertain significance
rs8993573757:144,288,531G/A—likely benign
rs21508274947:144,288,533T/A—uncertain significance
rs7553595097:144,288,535A/T—uncertain significance
rs7530884487:144,288,537C/T—likely benign
rs7589494757:144,288,538G/A—uncertain significance
rs12737667007:144,288,552T/G—likely benign
rs21508278707:144,288,554T/C—uncertain significance
rs20699873357:144,288,558A/T—likely benign
rs7771443537:144,288,568G/C—uncertain significance
rs13259773167:144,288,575T/C—uncertain significance
rs25478434807:144,288,576G/T—uncertain significance
rs25478435517:144,288,578G/C—uncertain significance
rs7705458707:144,288,582C/A—likely benign
rs5761689617:144,288,583G/A—uncertain significance
rs25478437097:144,288,589A/T—uncertain significance
rs7695253997:144,288,591C/Gmissense variantpathogenic
rs12653149767:144,288,592A/G—uncertain significance
rs14765519057:144,288,603A/G—likely benign
rs14173155897:144,288,622A/G—pathogenic
rs21508288947:144,288,623A/G—uncertain significance
rs1476027427:144,288,625C/T—uncertain significance
rs21508290677:144,288,632C/T—uncertain significance
rs7608814247:144,288,635G/A—conflicting classifications of pathogenicity
rs7540688997:144,288,646G/A—uncertain significance
rs8632242367:144,288,651G/A—likely benign
rs5472859217:144,288,652A/G—conflicting classifications of pathogenicity

Showing 100 of 231 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.