AKR1C4

aldo-keto reductase family 1 member C4

Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

Known Variants79 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7665673810:5,238,020T/Gregulatory region variant—
rs155479636210:5,238,848G/A—likely benign
rs78210239810:5,238,849C/T—uncertain significance
rs52814209210:5,238,872C/G—likely benign
rs57447859610:5,238,882G/A—uncertain significance
rs39812281510:5,242,038G/T—risk factor
rs249104007110:5,242,041C/T—likely benign
rs18717196210:5,242,046C/G—likely benign
rs20147218810:5,242,133T/G—likely benign
rs1730677910:5,242,164A/G—benign
rs78257915710:5,242,169T/C—uncertain significance
rs37526043410:5,242,186G/A—uncertain significance
rs52839970410:5,242,199G/A—uncertain significance
rs78243135610:5,242,231G/A—uncertain significance
rs249104101310:5,242,275C/T—likely benign
rs14256613710:5,242,277G/A—uncertain significance
rs13937047810:5,242,286G/C—likely benign
rs89132661510:5,242,328G/A—likely benign
rs708386910:5,244,295G/Aupstream gene variant—
rs155479724110:5,246,358C/G—uncertain significance
rs36759675410:5,246,367A/T—likely benign
rs78243927310:5,246,408A/G—likely benign
rs78245260210:5,246,441C/G—uncertain significance
rs660192410:5,247,302T/G——
rs375056810:5,247,631G/C——
rs792183810:5,247,701G/A—benign
rs53116542210:5,247,730C/T—uncertain significance
rs37308414210:5,247,738C/A—uncertain significance
rs1125304310:5,247,754G/C—uncertain significance
rs382912510:5,247,784C/G—benign
rs20144144410:5,247,806T/G—benign
rs78256476310:5,248,233C/T—likely benign
rs183248350710:5,248,234C/G—likely benign
rs13990583410:5,248,257A/T—uncertain significance
rs37450255410:5,248,280G/A—uncertain significance
rs155479748710:5,248,302G/C—uncertain significance
rs249105162110:5,248,313A/G—uncertain significance
rs78227154210:5,248,327G/A—likely benign
rs20129864410:5,248,332G/T—likely benign
rs14608845910:5,248,334C/G—likely benign
rs789385010:5,251,482A/Gdownstream gene variant—
rs790829710:5,251,702G/Adownstream gene variant—
rs790938010:5,251,815C/Tdownstream gene variant—
rs11731066910:5,252,013C/Gdownstream gene variant—
rs747527910:5,252,866A/Cdownstream gene variant—
rs747528110:5,252,902A/Cdownstream gene variant—
rs707821110:5,253,638A/T——
rs78230981410:5,254,675C/T—uncertain significance
rs78275792010:5,254,678C/T—uncertain significance
rs183197710:5,254,821C/A——
rs183200710:5,254,847A/Gintron variant—
rs249106143210:5,254,966A/C—likely benign
rs53034337810:5,254,985G/C—likely benign
rs14045065110:5,255,003G/A—benign
rs11178493110:5,255,004C/G—uncertain significance
rs249106157710:5,255,009G/A—uncertain significance
rs37434465010:5,255,020C/G—uncertain significance
rs488071810:5,255,025A/G—benign
rs76685332810:5,255,048C/T—uncertain significance
rs249106175310:5,255,050C/T—likely benign
rs14775773410:5,255,064G/A—uncertain significance
rs88896658210:5,255,098G/T—uncertain significance
rs52919861810:5,255,102C/T—uncertain significance
rs78230453710:5,255,104G/C—likely benign
rs20074290110:5,255,110A/T—uncertain significance
rs37618691910:5,255,127G/C—uncertain significance
rs1713458510:5,256,272T/Cintron variant—
rs7750304910:5,256,758C/Tintron variant—
rs18249879710:5,257,282G/Aintron variant—
rs791275110:5,257,941C/A——
rs155479854110:5,258,666T/C—likely benign
rs158834469910:5,258,718T/C—likely benign
rs78254405410:5,258,744T/C—uncertain significance
rs37655796810:5,258,750T/A—uncertain significance
rs1713459210:5,260,682C/Gmissense variantbenign
rs138350395210:5,260,690C/T—likely benign
rs55650912510:5,260,691C/T—uncertain significance
rs249107038910:5,260,714T/C—likely benign
rs7649494810:5,261,111C/Tdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.