KRT5

keratin 5

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. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Known Variants265 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs958335838	12:52,908,392	T/C	—	uncertain significance
rs550268995	12:52,908,403	A/G	—	benign
rs886049623	12:52,908,406	A/T	—	uncertain significance
rs942362509	12:52,908,455	G/A	—	uncertain significance
rs543314808	12:52,908,463	A/G	—	benign
rs6603	12:52,908,473	G/A	—	benign
rs761866506	12:52,908,494	A/G	—	uncertain significance
rs11549960	12:52,908,541	C/T	—	benign
rs568942940	12:52,908,592	T/C	—	uncertain significance
rs886049624	12:52,908,667	G/A	—	uncertain significance
rs267607660	12:52,908,744	C/T	—	not provided
rs776384768	12:52,908,745	C/T	—	uncertain significance
rs759198073	12:52,908,746	G/A	—	uncertain significance
rs781707438	12:52,908,763	G/T	—	likely benign
rs267607442	12:52,908,769	A/T	—	not provided
rs2498513365	12:52,908,772	T/C	—	uncertain significance
rs371399560	12:52,908,781	G/A	—	uncertain significance
rs148276250	12:52,908,794	C/T	—	benign
rs267607659	12:52,908,807	G/T	—	not provided
rs1469765298	12:52,908,822	T/A	—	likely benign
rs182482982	12:52,908,823	C/T	—	uncertain significance
rs754242209	12:52,908,824	G/A	stop gained	pathogenic
rs114734812	12:52,908,863	G/T	—	likely benign
rs11549949	12:52,908,872	C/T	—	benign
rs200216169	12:52,908,878	C/T	—	uncertain significance
rs202197926	12:52,908,879	G/A	—	benign
rs753029185	12:52,908,883	C/T	—	conflicting classifications of pathogenicity
rs143566042	12:52,908,884	C/T	—	conflicting classifications of pathogenicity
rs1360525919	12:52,908,887	C/T	—	uncertain significance
rs200916228	12:52,908,892	C/T	—	uncertain significance
rs186608084	12:52,908,894	G/T	—	uncertain significance
rs745858077	12:52,908,897	G/A	—	likely benign
rs11549950	12:52,908,917	C/T	—	benign
rs200188533	12:52,908,919	C/T	—	uncertain significance
rs571604097	12:52,908,923	C/T	—	uncertain significance
rs202104381	12:52,908,924	G/A	—	conflicting classifications of pathogenicity
rs375140289	12:52,908,938	C/A	—	uncertain significance
rs140352947	12:52,908,944	C/T	—	conflicting classifications of pathogenicity
rs144226740	12:52,908,945	G/T	—	benign
rs368027956	12:52,908,948	G/A	—	likely benign
rs58608695	12:52,908,949	C/T	—	not provided
rs148806544	12:52,908,963	G/A	—	benign
rs201274668	12:52,909,004	A/G	—	likely benign
rs142320369	12:52,909,030	G/A	—	benign
rs28694819	12:52,909,061	T/A	—	benign
rs1799902	12:52,909,419	T/C	—	benign
rs267607454	12:52,909,578	T/C	—	not provided
rs111448623	12:52,909,579	T/G	—	pathogenic
rs112071268	12:52,909,581	C/A	—	uncertain significance
rs2120471876	12:52,909,617	C/T	—	pathogenic
rs374119094	12:52,909,622	A/G	—	likely benign
rs2498515416	12:52,909,626	G/C	—	likely benign
rs201406573	12:52,910,403	T/C	—	likely benign
rs1375114658	12:52,910,415	A/G	—	uncertain significance
rs267607446	12:52,910,422	T/A	—	pathogenic
rs2498517031	12:52,910,423	G/T	—	uncertain significance
rs267607438	12:52,910,428	C/T	—	not provided
rs58319159	12:52,910,430	T/C	—	not provided
rs59190510	12:52,910,431	C/A	stop gained	pathogenic
rs56922686	12:52,910,433	C/T	—	pathogenic
rs61348633	12:52,910,436	T/C	missense variant	pathogenic
rs57155193	12:52,910,437	C/T	—	not provided
rs2120475116	12:52,910,439	A/G	—	uncertain significance
rs57348201	12:52,910,446	T/A	stop gained	pathogenic
rs267607448	12:52,910,449	G/A	missense variant	uncertain significance
rs2498517138	12:52,910,452	A/G	—	pathogenic
rs1264710617	12:52,910,454	G/C	—	conflicting classifications of pathogenicity
rs60596287	12:52,910,455	T/G	—	not provided
rs1131691471	12:52,910,458	C/A	—	likely pathogenic
rs60062350	12:52,910,459	G/C	—	not provided
rs60271599	12:52,910,460	A/G	missense variant	pathogenic
rs58288198	12:52,910,461	T/G	—	not provided
rs62642056	12:52,910,462	C/G	—	pathogenic
rs1938615785	12:52,910,464	C/G	—	pathogenic
rs1555156076	12:52,910,466	A/C	—	likely pathogenic
rs531299414	12:52,910,468	G/T	—	likely pathogenic
rs57599352	12:52,910,472	A/G	missense variant	pathogenic
rs142446757	12:52,910,477	C/T	—	benign
rs1294665232	12:52,910,497	C/A	—	pathogenic
rs200563006	12:52,910,508	C/T	—	uncertain significance
rs1199438663	12:52,910,516	C/T	—	uncertain significance
rs267607453	12:52,910,531	C/G	—	not provided
rs57845028	12:52,910,547	G/T	—	likely pathogenic
rs59243757	12:52,910,577	G/A	—	pathogenic
rs267607458	12:52,910,578	C/T	—	pathogenic
rs748836260	12:52,910,590	C/G	—	likely pathogenic
rs151313162	12:52,910,597	C/T	—	uncertain significance
rs140660135	12:52,910,601	C/T	—	uncertain significance
rs121912476	12:52,910,608	C/T	missense variant	risk factor
rs1938619348	12:52,910,616	G/A	—	uncertain significance
rs144359915	12:52,910,624	G/A	—	likely benign
rs748888461	12:52,910,638	C/T	—	uncertain significance
rs1799849	12:52,910,687	G/T	—	benign
rs1799848	12:52,910,712	A/G	—	benign
rs60815939	12:52,910,851	A/G	—	benign
rs60809982	12:52,910,899	T/C	—	not provided
rs141279000	12:52,910,914	C/T	—	likely benign
rs768794468	12:52,910,915	G/A	—	benign
rs761063555	12:52,910,938	G/A	—	uncertain significance
rs2669875	12:52,910,950	A/T	—	not provided

Showing 100 of 265 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.