KRT6A

keratin 6A

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. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]

Known Variants152 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1592183684	12:52,881,516	G/T	—	uncertain significance
rs1565585033	12:52,881,539	T/C	—	uncertain significance
rs11540301	12:52,881,544	G/C	—	benign
rs577005792	12:52,881,549	C/A	—	uncertain significance
rs2498485249	12:52,881,593	C/T	—	uncertain significance
rs1053734	12:52,881,595	A/G	—	likely benign
rs2498485265	12:52,881,596	T/A	—	uncertain significance
rs62617088	12:52,881,632	C/T	—	likely benign
rs780777904	12:52,881,634	C/T	—	uncertain significance
rs2498485404	12:52,881,665	C/T	—	uncertain significance
rs1195451609	12:52,881,670	C/A	—	uncertain significance
rs764320645	12:52,881,689	C/T	—	uncertain significance
rs376504088	12:52,881,690	G/A	—	likely benign
rs567110834	12:52,881,696	A/G	—	likely benign
rs780904452	12:52,881,700	G/C	—	uncertain significance
rs113369052	12:52,881,741	T/G	—	pathogenic
rs1228985171	12:52,881,836	C/T	—	likely benign
rs201148499	12:52,881,846	T/C	—	benign
rs375967909	12:52,881,849	T/A	—	uncertain significance
rs150913083	12:52,881,856	T/C	—	benign
rs372218481	12:52,881,863	T/C	—	likely benign
rs201376827	12:52,881,871	C/T	—	uncertain significance
rs1275995998	12:52,881,892	G/A	—	likely benign
rs139246747	12:52,881,910	A/G	—	benign
rs12581781	12:52,882,094	T/G	—	benign
rs267607470	12:52,882,120	C/G	—	not provided
rs60554162	12:52,882,122	C/T	missense variant	pathogenic
rs57052654	12:52,882,130	A/G	missense variant	pathogenic
rs59018888	12:52,882,133	A/T	—	not provided
rs267607469	12:52,882,142	T/C	—	not provided
rs267607463	12:52,882,143	A/G	missense variant	pathogenic
rs61293647	12:52,882,146	T/G	—	not provided
rs267607462	12:52,882,149	C/T	missense variant	pathogenic
rs57629991	12:52,882,151	A/C	missense variant	pathogenic
rs267607468	12:52,882,155	C/T	—	likely pathogenic
rs180935064	12:52,882,158	C/T	—	uncertain significance
rs368523101	12:52,882,159	G/A	—	benign
rs773056995	12:52,882,196	T/C	—	uncertain significance
rs186117617	12:52,882,208	C/T	—	benign
rs62617089	12:52,882,209	G/A	—	benign
rs555046513	12:52,882,210	G/A	—	likely benign
rs267607467	12:52,882,233	G/A	—	not provided
rs2498486885	12:52,882,237	G/A	—	likely benign
rs368052661	12:52,882,246	C/A	—	likely benign
rs190973167	12:52,882,251	C/G	—	benign
rs371779435	12:52,882,254	C/T	—	uncertain significance
rs145246640	12:52,882,267	G/A	—	benign
rs61730612	12:52,882,292	C/T	—	benign
rs747673159	12:52,882,312	G/A	—	likely benign
rs201401681	12:52,882,313	G/A	—	uncertain significance
rs369027797	12:52,882,315	G/A	—	likely benign
rs776551928	12:52,882,325	T/C	—	uncertain significance
rs372637888	12:52,882,329	C/T	—	uncertain significance
rs768888133	12:52,882,330	G/A	—	likely benign
rs527752387	12:52,882,335	G/A	—	benign
rs547550418	12:52,882,337	A/G	—	benign
rs570870907	12:52,882,340	A/G	—	benign
rs754171540	12:52,882,350	T/G	—	benign
rs56654203	12:52,883,714	T/C	—	likely benign
rs199654876	12:52,883,732	T/G	—	uncertain significance
rs1282903352	12:52,883,738	C/T	—	uncertain significance
rs745737972	12:52,883,744	C/T	—	uncertain significance
rs371739150	12:52,883,773	C/T	—	conflicting classifications of pathogenicity
rs775710030	12:52,883,806	C/T	—	uncertain significance
rs368272363	12:52,883,807	G/A	—	uncertain significance
rs1277837878	12:52,883,813	C/T	—	uncertain significance
rs372043088	12:52,883,814	G/A	—	benign
rs2498489358	12:52,883,827	C/T	—	uncertain significance
rs369911781	12:52,883,849	C/T	—	uncertain significance
rs1938231658	12:52,883,862	A/G	—	uncertain significance
rs202135949	12:52,884,341	C/A	—	benign
rs1132953	12:52,884,356	G/T	—	benign
rs15923	12:52,884,389	T/C	—	likely benign
rs770403240	12:52,884,407	A/G	—	likely benign
rs140989962	12:52,884,427	C/T	—	benign
rs756357205	12:52,884,449	G/C	—	uncertain significance
rs1938243910	12:52,884,462	T/A	—	uncertain significance
rs370500	12:52,884,470	C/T	—	likely benign
rs432834	12:52,884,479	A/G	—	likely benign
rs1938244417	12:52,884,480	G/A	—	uncertain significance
rs374415163	12:52,884,491	G/T	—	likely benign
rs551731110	12:52,884,509	G/A	—	benign
rs2120401551	12:52,884,512	C/T	—	likely benign
rs372399609	12:52,884,623	G/A	—	benign
rs2498490993	12:52,884,628	G/A	—	likely benign
rs398542	12:52,884,675	G/A	—	benign
rs574553595	12:52,884,709	A/C	—	uncertain significance
rs747979011	12:52,884,727	G/A	—	uncertain significance
rs12578949	12:52,884,735	A/G	—	benign
rs2498491241	12:52,884,739	T/C	—	likely pathogenic
rs530252412	12:52,884,882	C/T	—	benign
rs780833562	12:52,884,896	C/T	—	benign
rs752783156	12:52,884,906	G/A	—	uncertain significance
rs373623240	12:52,884,926	T/C	—	likely benign
rs376821206	12:52,884,933	C/T	—	uncertain significance
rs199827753	12:52,885,299	A/T	—	benign
rs201142403	12:52,885,316	A/G	—	benign
rs199528324	12:52,885,343	T/C	—	uncertain significance
rs534124939	12:52,885,344	G/C	—	likely benign
rs199531479	12:52,885,350	T/C	—	likely benign

Showing 100 of 152 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.