TYR

tyrosinase

Summary

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]

Known Variants513 total

rsidPosition (GRCh37)AllelesClassClinVar
rs454709111:88,910,821C/T—benign
rs179998911:88,910,923C/A5 prime UTR variantbenign
rs88604874411:88,911,081A/G—uncertain significance
rs75506900011:88,911,085G/A—uncertain significance
rs36806109611:88,911,112T/C—likely benign
rs2894088111:88,911,122A/Gmissense variantpathogenic
rs28186532411:88,911,123T/C—pathogenic
rs249652737811:88,911,130G/T—likely benign
rs125413898911:88,911,132C/T—uncertain significance
rs194324524411:88,911,142C/T—likely benign
rs92232330211:88,911,144G/A—uncertain significance
rs123883700211:88,911,147T/C—uncertain significance
rs132587464711:88,911,148G/A—likely benign
rs93255589111:88,911,151G/T—likely benign
rs77665731311:88,911,165C/T—uncertain significance
rs14871042911:88,911,169C/T—likely benign
rs54653791911:88,911,172T/C—likely benign
rs6175317711:88,911,178T/C—likely benign
rs6175317811:88,911,182C/Tmissense variantpathogenic
rs78105678011:88,911,186G/C—uncertain significance
rs137301464611:88,911,188G/A—uncertain significance
rs37333330511:88,911,192G/A—pathogenic
rs213524166811:88,911,193T/C—likely benign
rs133942382911:88,911,194G/C—uncertain significance
rs253392075211:88,911,195T/C—uncertain significance
rs120690318211:88,911,196C/A—likely benign
rs74883677211:88,911,208C/A—uncertain significance
rs77256222211:88,911,209C/T—likely benign
rs249652778411:88,911,211G/T—likely benign
rs105290089311:88,911,215G/T—pathogenic
rs36886754111:88,911,217G/A—likely benign
rs138845155111:88,911,218A/G—likely pathogenic
rs145137207811:88,911,219A/C—conflicting classifications of pathogenicity
rs74752654611:88,911,220G/A—likely benign
rs155508335511:88,911,222A/C—conflicting classifications of pathogenicity
rs6175317911:88,911,228G/A—pathogenic
rs249652784511:88,911,231C/G—uncertain significance
rs6175952011:88,911,233C/G—uncertain significance
rs75962494511:88,911,234C/T—uncertain significance
rs193926111:88,911,235G/A—likely benign
rs77568396011:88,911,237G/A—pathogenic
rs76319545511:88,911,240G/A—uncertain significance
rs37329403111:88,911,241C/T—likely benign
rs36929183711:88,911,242G/A—conflicting classifications of pathogenicity
rs249652795311:88,911,244G/A—likely benign
rs20096090911:88,911,245G/A—pathogenic
rs2894087811:88,911,246A/Gmissense variantpathogenic
rs249652796511:88,911,247C/T—likely benign
rs249652797711:88,911,248A/G—likely benign
rs37754677811:88,911,250G/A—likely benign
rs75570058111:88,911,253T/A—pathogenic
rs1331273911:88,911,254C/A—likely pathogenic
rs15078806111:88,911,255C/T—benign
rs249652805311:88,911,258G/C—uncertain significance
rs156538633811:88,911,259T/A—pathogenic
rs79605187811:88,911,260G/Amissense variantpathogenic
rs6175318011:88,911,261G/Amissense variantpathogenic
rs6175318111:88,911,270C/G—pathogenic
rs146635489611:88,911,274C/A—likely benign
rs6175318211:88,911,276G/T—pathogenic
rs159113373111:88,911,278G/T—pathogenic
rs249652814611:88,911,279G/T—likely pathogenic
rs36754306711:88,911,284T/C—likely pathogenic
rs2894087911:88,911,285G/Cmissense variantpathogenic
rs77357066511:88,911,295C/G—uncertain significance
rs100194403111:88,911,296C/T—uncertain significance
rs193926011:88,911,299C/T—benign
rs74627948611:88,911,301G/A—likely benign
rs249652823111:88,911,304C/T—likely benign
rs76990758311:88,911,306A/G—uncertain significance
rs249652825111:88,911,310A/G—likely benign
rs37079832511:88,911,312C/T—uncertain significance
rs159113377111:88,911,313A/C—likely benign
rs88604874511:88,911,315T/C—uncertain significance
rs93126215211:88,911,319G/C—likely benign
rs156538642511:88,911,344G/T—likely pathogenic
rs6175318411:88,911,350C/Tmissense variantpathogenic
rs6175318511:88,911,351G/Amissense variantpathogenic
rs6175318611:88,911,353G/T—not provided
rs54405301511:88,911,357C/G—uncertain significance
rs37681319011:88,911,358G/A—likely benign
rs6175318811:88,911,359T/C—conflicting classifications of pathogenicity
rs118389019411:88,911,360G/A—pathogenic
rs6175318911:88,911,361G/C—likely pathogenic
rs75465447311:88,911,362C/T—pathogenic
rs2894087611:88,911,363C/Tmissense variantpathogenic
rs13992658911:88,911,367C/T—likely benign
rs14968491711:88,911,368G/A—uncertain significance
rs74620881411:88,911,376T/A—pathogenic
rs146409978111:88,911,379T/G—uncertain significance
rs194325080211:88,911,380A/G—likely pathogenic
rs78057334111:88,911,383A/T—uncertain significance
rs2894087711:88,911,386T/Cmissense variantpathogenic
rs194325098311:88,911,387G/A—likely pathogenic
rs249652857611:88,911,392T/C—likely pathogenic
rs13785489011:88,911,393G/Amissense variantpathogenic
rs213524204111:88,911,394C/T—likely benign
rs20095192811:88,911,403C/A—uncertain significance
rs194325159111:88,911,406C/T—likely benign
rs6175325211:88,911,410G/A—likely pathogenic

Showing 100 of 513 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.