PYCR1

pyrroline-5-carboxylate reductase 1

Summary

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Known Variants259 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54549172517:79,890,321G/A—uncertain significance
rs88605356617:79,890,344G/A—uncertain significance
rs88605356717:79,890,391C/A—uncertain significance
rs88605356817:79,890,468C/T—uncertain significance
rs88605356917:79,890,586C/G—uncertain significance
rs57075775517:79,890,608C/T—uncertain significance
rs53963788117:79,890,613G/A—uncertain significance
rs56230043317:79,890,650G/A—uncertain significance
rs14945643217:79,890,738G/C—uncertain significance
rs20167022117:79,890,783C/A—uncertain significance
rs374480717:79,890,818C/T—benign
rs37613513617:79,890,845A/G—uncertain significance
rs75956814417:79,890,861G/A—uncertain significance
rs204103181717:79,890,895T/A—uncertain significance
rs96878881517:79,890,940G/A—uncertain significance
rs55389035817:79,890,986C/T—uncertain significance
rs11308322517:79,891,022G/A—benign
rs56660595517:79,891,028C/G—uncertain significance
rs251011059017:79,891,101C/T—uncertain significance
rs77065843217:79,891,102C/T—likely benign
rs78107184017:79,891,103G/A—uncertain significance
rs251011066717:79,891,116T/G—uncertain significance
rs99058821517:79,891,118C/T—uncertain significance
rs14398243717:79,891,119G/T—uncertain significance
rs55611885317:79,891,128G/C—uncertain significance
rs127856640817:79,891,145G/A—uncertain significance
rs6174761817:79,891,147T/C—benign
rs37384017017:79,891,148G/A—uncertain significance
rs14089850217:79,891,150C/T—likely benign
rs18504424517:79,891,155C/T—uncertain significance
rs3558917917:79,891,156G/A—benign
rs75229377417:79,891,158T/A—uncertain significance
rs251011098917:79,891,162T/C—likely benign
rs37703327417:79,891,175A/G—uncertain significance
rs14040062617:79,891,183C/T—likely benign
rs3457564517:79,891,184T/C—uncertain significance
rs77996474417:79,891,186G/C—uncertain significance
rs251011114117:79,891,191G/T—uncertain significance
rs214385416917:79,891,193A/G—uncertain significance
rs15036874817:79,891,210G/A—likely benign
rs76704346017:79,891,230G/A—uncertain significance
rs204104634517:79,891,240G/A—likely benign
rs94885669517:79,891,248G/A—likely benign
rs131674898017:79,891,252C/T—likely benign
rs105752446017:79,891,253C/T—pathogenic
rs126506902917:79,891,256G/A—conflicting classifications of pathogenicity
rs76351935917:79,891,258G/A—likely benign
rs130092200417:79,891,262C/T—likely benign
rs75025401517:79,891,265G/A—benign
rs101234576517:79,891,272T/C—likely benign
rs110562817:79,892,062G/A—benign
rs75848668917:79,892,182C/T—likely benign
rs14056164417:79,892,183G/A—likely benign
rs37049985617:79,892,190G/C—likely benign
rs74626377417:79,892,191C/T—likely benign
rs75652081617:79,892,192G/A—likely benign
rs204109308717:79,892,193G/A—likely benign
rs20071073017:79,892,196G/A—uncertain significance
rs76823524617:79,892,200A/G—conflicting classifications of pathogenicity
rs12191837417:79,892,202C/Tmissense variantpathogenic
rs77053988517:79,892,209G/A—uncertain significance
rs204109463717:79,892,211A/G—uncertain significance
rs75921411317:79,892,214C/T—uncertain significance
rs251011437617:79,892,221C/G—uncertain significance
rs204109585817:79,892,227C/G—likely pathogenic
rs76304423517:79,892,229G/A—uncertain significance
rs28187531817:79,892,230C/Tmissense variantpathogenic
rs55360938017:79,892,231G/A—conflicting classifications of pathogenicity
rs76758195017:79,892,244G/A—conflicting classifications of pathogenicity
rs12191837817:79,892,247C/Tmissense variantpathogenic
rs75636387017:79,892,248G/A—conflicting classifications of pathogenicity
rs251011456317:79,892,250A/G—uncertain significance
rs28187531917:79,892,256C/Tmissense variantpathogenic
rs129439352017:79,892,268A/G—uncertain significance
rs100460230817:79,892,270A/G—likely benign
rs204109836417:79,892,271T/C—conflicting classifications of pathogenicity
rs77050587217:79,892,277G/A—conflicting classifications of pathogenicity
rs77608366117:79,892,280T/C—uncertain significance
rs74554944617:79,892,282G/A—conflicting classifications of pathogenicity
rs251011492117:79,892,294A/G—likely benign
rs76295667717:79,892,298G/A—uncertain significance
rs14389341417:79,892,308C/T—uncertain significance
rs76175638817:79,892,309G/A—likely benign
rs204110307117:79,892,335G/T—uncertain significance
rs75641624917:79,892,357G/A—likely benign
rs108530767917:79,892,362C/Tmissense variantpathogenic
rs119490651917:79,892,364C/T—uncertain significance
rs97943157517:79,892,383G/A—likely benign
rs20068183017:79,892,407G/C—likely benign
rs204111325117:79,892,509G/C—likely benign
rs214387027417:79,892,524C/T—uncertain significance
rs14434699617:79,892,528C/Gsplice region variantpathogenic
rs86650717717:79,892,538C/T—likely benign
rs12191837517:79,892,546C/Amissense variantpathogenic
rs75571148117:79,892,547G/A—conflicting classifications of pathogenicity
rs74895022217:79,892,552G/T—uncertain significance
rs76851086917:79,892,563C/T—uncertain significance
rs77882355817:79,892,564G/A—uncertain significance
rs77314271217:79,892,585C/T—uncertain significance
rs87202917:79,892,586A/G—benign

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.