KRT83

keratin 83

Summary

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

Known Variants177 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77749282212:52,708,147T/G—uncertain significance
rs88604962012:52,708,190G/A—uncertain significance
rs285245612:52,708,241G/A—benign
rs285767212:52,708,277A/G—benign
rs95605662912:52,708,280G/A—uncertain significance
rs77154702612:52,708,308A/C—uncertain significance
rs95558190012:52,708,313A/C—uncertain significance
rs193865536912:52,708,355G/T—uncertain significance
rs18653210312:52,708,371G/A—uncertain significance
rs53518670012:52,708,392C/A—benign
rs285767112:52,708,420G/A—benign
rs56388701212:52,708,432C/T—likely benign
rs76560723312:52,708,437G/A—uncertain significance
rs133652808912:52,708,455G/T—uncertain significance
rs75763803012:52,708,472G/A—uncertain significance
rs20023233912:52,708,474G/A—conflicting classifications of pathogenicity
rs36782459412:52,708,479C/T—uncertain significance
rs14735948212:52,708,485C/T—benign
rs74815167312:52,708,499C/T—uncertain significance
rs37205050612:52,708,507C/T—uncertain significance
rs14532314612:52,708,517G/A—likely benign
rs142706595912:52,708,519C/G—uncertain significance
rs54195285112:52,708,528C/T—likely benign
rs37534558012:52,708,535C/T—likely benign
rs52778984312:52,708,536G/A—uncertain significance
rs76423844212:52,708,541C/T—conflicting classifications of pathogenicity
rs56416402012:52,708,547G/A—likely benign
rs36972995712:52,708,558C/T—uncertain significance
rs1183608012:52,708,559G/A—likely benign
rs285767012:52,708,565A/G—benign
rs14406180712:52,708,570C/T—likely benign
rs37320328612:52,708,595G/T—conflicting classifications of pathogenicity
rs382522112:52,708,978T/C—benign
rs374172112:52,709,032T/C—benign
rs37172532912:52,709,086A/C—likely benign
rs14875721712:52,709,122C/G—likely benign
rs78131758012:52,709,127C/A—uncertain significance
rs374172012:52,709,222T/C—benign
rs285246912:52,709,429A/G—benign
rs143808753312:52,709,687C/T—pathogenic
rs78620548012:52,709,695A/Cmissense variantpathogenic
rs75556025412:52,709,702G/A—uncertain significance
rs254055366312:52,709,711T/C—uncertain significance
rs177232875712:52,709,714C/T—uncertain significance
rs5780228812:52,709,720C/Tmissense variantpathogenic
rs74723803612:52,709,731C/A—uncertain significance
rs14473223012:52,709,776G/A—uncertain significance
rs20105435912:52,709,804C/G—uncertain significance
rs52915851312:52,709,816C/T—uncertain significance
rs212133870112:52,709,835A/G—likely benign
rs52833984112:52,709,839C/T—likely benign
rs14063503012:52,709,855C/T—benign
rs57132007812:52,709,879C/T—benign
rs285246812:52,709,880A/G—benign
rs224847312:52,709,883T/C—benign
rs20040266512:52,709,901G/T—benign
rs227026612:52,709,981C/A—benign
rs1161133012:52,710,037A/G—benign
rs5611846612:52,710,102C/T—benign
rs5572226612:52,710,198C/T—benign
rs19977337212:52,710,239C/T—likely benign
rs37047674012:52,710,243C/A—likely benign
rs227026712:52,710,246T/C—benign
rs37743548512:52,710,247G/A—benign
rs55315230212:52,710,275C/T—conflicting classifications of pathogenicity
rs14346776312:52,710,276G/A—benign
rs20220643012:52,710,279T/C—uncertain significance
rs76930664912:52,710,294C/T—uncertain significance
rs128419432412:52,710,308C/T—uncertain significance
rs225728612:52,710,309G/A—benign
rs20182891812:52,710,331C/T—uncertain significance
rs75571993212:52,710,336G/T—likely benign
rs13880782612:52,710,348C/T—benign
rs99673595412:52,710,368T/C—uncertain significance
rs36861095812:52,710,635C/A—likely benign
rs37234501612:52,710,636C/T—likely benign
rs254055462912:52,710,638C/T—uncertain significance
rs77075733612:52,710,648T/A—conflicting classifications of pathogenicity
rs77563031712:52,710,650C/T—uncertain significance
rs36772027712:52,710,664G/A—likely benign
rs76232624212:52,710,666C/T—uncertain significance
rs88604962112:52,710,667C/G—uncertain significance
rs14904629912:52,710,680C/T—uncertain significance
rs14303747712:52,710,681G/A—conflicting classifications of pathogenicity
rs254055467112:52,710,684T/C—uncertain significance
rs37619322812:52,710,714C/G—uncertain significance
rs285766912:52,710,715G/A—benign
rs285246412:52,710,721G/Cmissense variantbenign
rs20027440412:52,710,730C/T—conflicting classifications of pathogenicity
rs36951026412:52,710,743C/T—uncertain significance
rs77536062312:52,710,744G/A—uncertain significance
rs75239477112:52,710,746C/T—uncertain significance
rs75329318812:52,710,747——pathogenic
rs20145985712:52,710,768C/T—conflicting classifications of pathogenicity
rs14320221712:52,710,790T/C—benign
rs15086737412:52,710,798T/C—likely benign
rs13930873612:52,710,800C/T—uncertain significance
rs131301400912:52,710,802G/T—likely benign
rs125043320112:52,710,811C/T—likely benign
rs285246312:52,710,897T/C—benign

Showing 100 of 177 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.