KRT6B

keratin 6B

Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Known Variants142 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13893320912:52,841,004G/A—likely benign
rs53931830612:52,841,008G/A—uncertain significance
rs194032416312:52,841,010G/A—likely benign
rs14140981412:52,841,029G/C—uncertain significance
rs14698809612:52,841,036C/T—conflicting classifications of pathogenicity
rs13802191812:52,841,044A/G—benign
rs194032490812:52,841,049G/C—uncertain significance
rs14949596612:52,841,060C/T—uncertain significance
rs55459696212:52,841,065G/A—likely benign
rs14820942212:52,841,076G/T—benign
rs20005523212:52,841,120A/G—conflicting classifications of pathogenicity
rs6174946812:52,841,121G/A—benign
rs13935847212:52,841,146C/T—uncertain significance
rs15002101512:52,841,159C/T—conflicting classifications of pathogenicity
rs6174635512:52,841,174C/T—benign
rs14786789412:52,841,175G/A—likely benign
rs6174635412:52,841,179C/T—benign
rs75093264312:52,841,185C/T—conflicting classifications of pathogenicity
rs20107348412:52,841,193G/A—benign
rs249843989512:52,841,203A/G—uncertain significance
rs37367018612:52,841,223G/C—likely benign
rs41386212:52,841,309A/G—benign
rs14083448112:52,841,341C/T—likely benign
rs77755091912:52,841,363G/A—likely benign
rs75555417812:52,841,549G/A—benign
rs6062772612:52,841,572C/Tmissense variantpathogenic
rs159216923412:52,841,580A/C—pathogenic
rs13847917512:52,841,590G/A—benign
rs76462068912:52,841,598G/A—conflicting classifications of pathogenicity
rs77210322912:52,841,599C/T—uncertain significance
rs76715940112:52,841,600G/A—likely benign
rs26760747312:52,841,605C/Tmissense variantpathogenic
rs76577973212:52,841,612C/T—benign
rs14159759512:52,841,626C/T—likely benign
rs14528028412:52,841,627G/T—uncertain significance
rs91281990212:52,841,640T/C—uncertain significance
rs74933970312:52,841,658C/T—uncertain significance
rs13787292512:52,841,665G/C—conflicting classifications of pathogenicity
rs14639155312:52,841,673T/C—likely benign
rs14294092712:52,841,678C/T—benign
rs20077838812:52,841,742C/T—likely benign
rs55686004712:52,841,743G/A—uncertain significance
rs14194702512:52,841,764C/T—uncertain significance
rs38862612:52,841,765G/A—benign
rs123275411212:52,841,778G/A—uncertain significance
rs20189482612:52,841,802G/A—benign
rs102698174212:52,842,613C/T—likely benign
rs136661010212:52,842,628G/T—uncertain significance
rs13898881012:52,842,643C/T—likely benign
rs36836244012:52,842,672C/T—uncertain significance
rs194035343812:52,842,693T/C—uncertain significance
rs75290733112:52,842,695C/T—likely benign
rs76420364912:52,842,705C/T—uncertain significance
rs78149496612:52,842,711T/C—uncertain significance
rs43701412:52,842,736T/C—benign
rs125367151212:52,842,748C/T—uncertain significance
rs77302203712:52,842,749G/A—likely benign
rs1117012512:52,842,762G/A—benign
rs100666891812:52,843,239C/T—likely benign
rs75522843112:52,843,256T/G—likely benign
rs137346683612:52,843,283C/A—uncertain significance
rs1150394612:52,843,285T/G—benign
rs78104295612:52,843,289C/T—likely benign
rs123861185312:52,843,342G/A—likely benign
rs37707985912:52,843,379G/A—likely benign
rs76331060512:52,843,392A/T—uncertain significance
rs14603493312:52,843,424A/G—benign
rs42582712:52,843,534T/A—benign
rs38289412:52,843,581A/G—likely benign
rs194036895312:52,843,585G/A—uncertain significance
rs15119124712:52,843,613T/G—uncertain significance
rs14030304012:52,843,619T/A—likely benign
rs14534453212:52,843,626A/C—benign
rs78021265912:52,843,634C/T—uncertain significance
rs15003449312:52,843,635A/G—benign
rs133036321212:52,843,636T/C—uncertain significance
rs135529537712:52,843,642G/A—likely benign
rs37065380612:52,843,778C/T—benign
rs38037912:52,843,779T/C—benign
rs53596068012:52,843,783T/C—likely benign
rs76297635612:52,843,804G/A—likely benign
rs37731306112:52,843,833C/T—uncertain significance
rs7145328912:52,843,875G/A—likely benign
rs74800328812:52,844,204C/G—uncertain significance
rs116460288412:52,844,221T/A—uncertain significance
rs14963217912:52,844,234C/T—benign
rs75162172312:52,844,240C/T—likely benign
rs2841488112:52,844,243A/G—benign
rs319429012:52,844,246A/G—benign
rs74760636412:52,844,250C/T—uncertain significance
rs77856601212:52,844,260C/T—uncertain significance
rs65242312:52,844,265T/C—benign
rs249844562712:52,844,272G/C—uncertain significance
rs20195607312:52,844,302C/T—conflicting classifications of pathogenicity
rs1117012612:52,844,310G/A—uncertain significance
rs14748525212:52,844,336G/A—benign
rs13992509112:52,844,358G/A—benign
rs15022177212:52,844,378C/G—benign
rs55352720012:52,844,387C/A—uncertain significance
rs138401613012:52,844,398A/T—uncertain significance

Showing 100 of 142 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.