KRT71

keratin 71

Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Known Variants112 total

rsidPosition (GRCh37)AllelesClassClinVar
rs229250612:52,938,320C/T—benign
rs14449465912:52,938,321G/A—likely benign
rs14230316412:52,938,347A/G—conflicting classifications of pathogenicity
rs36850922012:52,938,363C/T—uncertain significance
rs229250712:52,938,364T/C—benign
rs14783546312:52,938,382G/A—likely benign
rs14030764812:52,938,403G/A—benign
rs15033822212:52,938,411C/T—likely benign
rs20211208712:52,938,420C/T—uncertain significance
rs13798963312:52,938,428A/T—uncertain significance
rs37054455612:52,938,465C/T—uncertain significance
rs14947943512:52,938,468C/T—uncertain significance
rs14461812212:52,938,474C/A—likely benign
rs102769197412:52,938,479C/T—uncertain significance
rs76134217312:52,938,480T/C—uncertain significance
rs13852538612:52,938,485C/T—uncertain significance
rs14310215512:52,938,486G/A—uncertain significance
rs1078351812:52,938,497A/C—benign
rs75731394012:52,938,505G/A—likely benign
rs11298788812:52,938,512G/C—benign
rs1078351912:52,938,535A/G—benign
rs1050630712:52,938,705C/T—benign
rs6097130912:52,939,225G/A—benign
rs37231161612:52,939,360G/A—uncertain significance
rs119767895712:52,939,394G/A—likely benign
rs1074764112:52,939,765A/G—benign
rs1074764212:52,939,828C/T—benign
rs1117017112:52,939,994T/C—benign
rs14519555212:52,940,063C/T—benign
rs141019768112:52,940,082C/T—uncertain significance
rs76576848412:52,940,097C/T—uncertain significance
rs56656442912:52,940,157C/T—uncertain significance
rs15000398112:52,940,166C/T—uncertain significance
rs37104059812:52,940,167G/A—uncertain significance
rs60319312:52,940,168T/C—benign
rs14070693512:52,940,197C/T—likely benign
rs74995272412:52,940,198G/C—likely benign
rs37216133912:52,940,210G/A—likely benign
rs75751152012:52,940,224G/A—uncertain significance
rs14785161112:52,940,240G/A—likely benign
rs20203364012:52,940,250C/T—uncertain significance
rs77478485912:52,940,255C/A—uncertain significance
rs20073226112:52,940,297A/C—likely benign
rs476192612:52,940,597A/G—benign
rs476192912:52,941,529T/C—benign
rs14080004212:52,941,653G/A—benign
rs3598886312:52,941,682T/A—benign
rs127254096612:52,941,687C/T—uncertain significance
rs15028697212:52,941,695C/T—likely benign
rs14153489012:52,941,699G/A—likely benign
rs13792449312:52,941,728G/A—likely benign
rs380308312:52,941,894C/T—benign
rs77201026612:52,941,952G/A—uncertain significance
rs3446838712:52,942,001G/A—likely benign
rs18813765012:52,942,010C/T—benign
rs76797692612:52,942,049T/C—uncertain significance
rs193909408012:52,942,080G/T—likely benign
rs139498567112:52,942,093G/A—uncertain significance
rs1230871912:52,942,235G/T—benign
rs1087630912:52,942,301C/T—benign
rs62244612:52,942,362A/G—benign
rs75587374812:52,942,507A/G—uncertain significance
rs142566265012:52,942,556T/C—uncertain significance
rs76750881012:52,942,576A/G—uncertain significance
rs193910719312:52,942,589T/A—likely benign
rs380308512:52,942,694C/T—benign
rs63520612:52,942,998C/T—benign
rs75473045912:52,943,071C/A—uncertain significance
rs75749019012:52,943,085G/A—uncertain significance
rs14727573712:52,943,098G/A—likely benign
rs476193012:52,943,144G/A—benign
rs20196063412:52,943,156C/G—likely benign
rs67391612:52,943,684T/C—benign
rs75630180612:52,943,825T/C—uncertain significance
rs76637240012:52,943,831A/G—uncertain significance
rs14745253712:52,943,835C/T—uncertain significance
rs78097771712:52,943,841G/A—uncertain significance
rs13921357012:52,943,854C/T—benign
rs143770541812:52,943,867C/G—uncertain significance
rs75322015412:52,943,899C/G—uncertain significance
rs13970336612:52,943,953G/A—benign
rs133362952812:52,943,968C/A—uncertain significance
rs76347672012:52,943,987T/C—uncertain significance
rs1074764312:52,944,060T/C—benign
rs1773008812:52,946,336A/G—benign
rs68138712:52,946,346C/G—benign
rs6172986312:52,946,424G/A—benign
rs14670154212:52,946,426C/T—uncertain significance
rs104983109212:52,946,435A/T—uncertain significance
rs58777754512:52,946,440A/Cmissense variantpathogenic
rs66547012:52,946,498C/T—benign
rs6173272912:52,946,510C/T—uncertain significance
rs249844920612:52,946,536T/C—uncertain significance
rs76477985512:52,946,539T/C—uncertain significance
rs66552212:52,946,543C/T—benign
rs13848694912:52,946,544G/A—likely benign
rs249844932112:52,946,579T/C—uncertain significance
rs6173490512:52,946,594C/T—benign
rs86817521212:52,946,604A/G—likely benign
rs78155240212:52,946,639G/A—uncertain significance

Showing 100 of 112 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.