KRT4

keratin 4

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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Known Variants122 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs753033796	12:53,200,357	A/C	—	uncertain significance
rs886049638	12:53,200,448	C/T	—	uncertain significance
rs886049639	12:53,200,564	C/T	—	uncertain significance
rs2035879	12:53,200,584	C/T	—	benign
rs546884677	12:53,200,586	C/T	—	benign
rs78282727	12:53,200,720	G/A	—	benign
rs886049640	12:53,200,727	G/T	—	uncertain significance
rs572216995	12:53,200,772	A/T	—	benign
rs149040467	12:53,200,785	G/A	—	benign
rs372075566	12:53,200,823	A/T	—	benign
rs2498777299	12:53,200,875	G/A	—	uncertain significance
rs777078260	12:53,200,885	T/C	—	uncertain significance
rs573971498	12:53,200,904	G/T	—	benign
rs190897990	12:53,200,921	C/G	—	conflicting classifications of pathogenicity
rs377399080	12:53,200,923	A/G	—	conflicting classifications of pathogenicity
rs1345230715	12:53,200,949	G/T	—	uncertain significance
rs771250577	12:53,200,975	C/T	—	uncertain significance
rs534019513	12:53,200,997	G/A	—	benign
rs367751022	12:53,200,999	T/A	—	uncertain significance
rs373947229	12:53,201,030	C/T	—	likely benign
rs7952923	12:53,201,128	G/A	—	benign
rs1939818709	12:53,201,166	T/G	—	uncertain significance
rs777376453	12:53,201,180	G/A	—	uncertain significance
rs931479	12:53,201,413	T/C	—	likely benign
rs200484321	12:53,201,456	G/A	—	likely benign
rs745647700	12:53,201,466	G/C	—	uncertain significance
rs62642055	12:53,201,471	C/T	missense variant	pathogenic
rs2498778469	12:53,201,509	T/C	—	uncertain significance
rs377329227	12:53,201,515	C/T	—	conflicting classifications of pathogenicity
rs192699667	12:53,201,516	G/A	—	benign
rs2498778532	12:53,201,537	C/T	—	uncertain significance
rs772882487	12:53,201,570	C/T	—	likely benign
rs199607128	12:53,201,571	G/A	—	benign
rs374654554	12:53,201,582	G/A	—	likely benign
rs1939828371	12:53,201,598	A/C	—	uncertain significance
rs751984023	12:53,201,627	C/T	—	likely benign
rs3816880	12:53,201,680	C/T	—	benign
rs1454816170	12:53,202,089	T/A	—	uncertain significance
rs113928381	12:53,202,123	C/T	—	benign
rs1939839883	12:53,202,131	G/C	—	uncertain significance
rs1371399315	12:53,202,141	T/G	—	uncertain significance
rs762292949	12:53,202,147	C/G	—	uncertain significance
rs7956809	12:53,202,183	C/G	—	benign
rs2307028	12:53,202,380	C/T	—	benign
rs749943854	12:53,202,486	G/A	—	conflicting classifications of pathogenicity
rs770727989	12:53,202,515	A/G	—	likely benign
rs778125368	12:53,202,524	G/A	—	likely benign
rs374206474	12:53,202,573	T/C	—	uncertain significance
rs754647771	12:53,202,596	G/A	—	likely benign
rs189596654	12:53,202,599	C/T	—	benign
rs539298697	12:53,202,600	G/A	—	likely benign
rs767441876	12:53,202,638	C/A	—	benign
rs77231962	12:53,202,859	A/G	—	benign
rs776481112	12:53,203,168	G/T	—	uncertain significance
rs369207280	12:53,203,200	G/T	—	conflicting classifications of pathogenicity
rs201754946	12:53,203,235	C/T	—	conflicting classifications of pathogenicity
rs369593094	12:53,203,260	G/C	—	uncertain significance
rs7976128	12:53,203,476	C/T	—	benign
rs4919747	12:53,204,327	G/A	—	benign
rs17119420	12:53,204,524	C/A	—	benign
rs2498783735	12:53,204,547	A/G	—	uncertain significance
rs886049641	12:53,204,552	C/T	—	uncertain significance
rs371875636	12:53,204,558	G/A	—	likely benign
rs1297165665	12:53,204,562	T/C	—	uncertain significance
rs1330392035	12:53,204,574	G/A	—	uncertain significance
rs73306189	12:53,204,603	G/A	—	benign
rs777722293	12:53,204,610	G/A	—	uncertain significance
rs2307027	12:53,204,614	C/T	—	benign
rs10783539	12:53,204,757	T/C	—	benign
rs17119426	12:53,205,443	C/T	—	benign
rs886049642	12:53,205,543	G/A	—	uncertain significance
rs201795280	12:53,205,601	C/T	—	benign
rs766644080	12:53,205,666	G/C	—	benign
rs199768158	12:53,205,676	T/C	—	likely benign
rs370759790	12:53,205,697	G/A	—	conflicting classifications of pathogenicity
rs774677002	12:53,205,711	C/T	—	likely benign
rs766556177	12:53,205,725	T/C	—	uncertain significance
rs188245182	12:53,205,749	C/T	—	conflicting classifications of pathogenicity
rs7959052	12:53,205,757	T/C	missense variant	benign
rs535497819	12:53,205,758	G/A	—	likely benign
rs886049643	12:53,205,770	A/G	—	uncertain significance
rs3134665	12:53,206,039	A/G	—	benign
rs17119473	12:53,207,321	C/T	—	benign
rs780754412	12:53,207,386	C/T	—	uncertain significance
rs140582332	12:53,207,387	G/A	—	likely benign
rs770858924	12:53,207,431	G/C	—	uncertain significance
rs912145043	12:53,207,437	C/T	—	uncertain significance
rs762792489	12:53,207,438	C/T	—	uncertain significance
rs17119475	12:53,207,439	G/A	—	benign
rs199567665	12:53,207,466	A/G	—	uncertain significance
rs758695571	12:53,207,479	G/C	—	uncertain significance
rs200831095	12:53,207,482	G/T	—	conflicting classifications of pathogenicity
rs201805600	12:53,207,484	G/T	—	conflicting classifications of pathogenicity
rs1317563251	12:53,207,485	T/C	—	uncertain significance
rs886049644	12:53,207,490	A/C	—	uncertain significance
rs2498788940	12:53,207,499	T/A	—	uncertain significance
rs904956619	12:53,207,523	C/A	—	uncertain significance
rs753431318	12:53,207,526	G/C	—	uncertain significance
rs371081693	12:53,207,536	C/T	—	uncertain significance
rs373594963	12:53,207,537	G/A	—	likely benign

Showing 100 of 122 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.