KRT2

keratin 2

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 expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Known Variants156 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs188447443	12:53,038,337	T/G	—	likely benign
rs3825222	12:53,038,356	G/A	—	benign
rs1941133709	12:53,038,365	T/C	—	uncertain significance
rs542479365	12:53,038,392	G/A	—	benign
rs138563926	12:53,038,449	G/A	—	benign
rs1178289586	12:53,038,457	T/A	—	uncertain significance
rs141659798	12:53,038,468	T/C	—	benign
rs1941135094	12:53,038,479	G/A	—	uncertain significance
rs1285903268	12:53,038,481	C/G	—	uncertain significance
rs745675085	12:53,038,501	A/G	—	uncertain significance
rs886049628	12:53,038,502	C/T	—	uncertain significance
rs58532645	12:53,038,503	A/G	—	benign
rs886049629	12:53,038,514	G/T	—	uncertain significance
rs146357787	12:53,038,524	A/G	—	benign
rs1189980977	12:53,038,540	G/A	—	uncertain significance
rs539170994	12:53,038,555	G/A	—	uncertain significance
rs139377296	12:53,038,587	C/T	—	likely benign
rs117041267	12:53,038,588	A/G	—	benign
rs1941137697	12:53,038,678	A/C	—	uncertain significance
rs2232563	12:53,038,761	A/G	—	benign
rs1398961883	12:53,038,811	A/G	—	uncertain significance
rs2498597258	12:53,038,818	G/T	—	likely benign
rs150413930	12:53,038,823	C/T	—	conflicting classifications of pathogenicity
rs773823068	12:53,038,850	T/C	—	likely benign
rs766846917	12:53,038,854	C/A	—	uncertain significance
rs886049630	12:53,038,894	C/A	—	uncertain significance
rs746933813	12:53,038,906	G/A	—	conflicting classifications of pathogenicity
rs1941143057	12:53,038,910	C/G	—	uncertain significance
rs1941145327	12:53,039,000	A/C	—	uncertain significance
rs139954107	12:53,039,003	C/T	—	conflicting classifications of pathogenicity
rs141769548	12:53,039,004	G/A	—	likely benign
rs199836359	12:53,039,024	C/T	—	conflicting classifications of pathogenicity
rs186531871	12:53,039,025	G/A	—	benign
rs1365527480	12:53,039,029	G/A	—	uncertain significance
rs2232562	12:53,039,073	G/A	—	benign
rs142557360	12:53,039,092	C/T	—	uncertain significance
rs571471637	12:53,039,093	G/A	—	conflicting classifications of pathogenicity
rs758716741	12:53,039,105	C/T	—	likely benign
rs567369735	12:53,039,156	C/A	—	uncertain significance
rs35043606	12:53,039,173	G/C	—	benign
rs142620105	12:53,039,323	A/G	—	benign
rs777454678	12:53,039,343	C/G	—	uncertain significance
rs374913826	12:53,039,345	C/A	—	conflicting classifications of pathogenicity
rs2232560	12:53,039,537	C/T	—	benign
rs652895	12:53,040,259	T/A	—	benign
rs2232559	12:53,040,411	T/C	—	benign
rs61726452	12:53,040,531	C/T	—	likely pathogenic
rs137852628	12:53,040,532	C/A	missense variant	pathogenic
rs137852629	12:53,040,534	C/T	missense variant	pathogenic
rs61726451	12:53,040,542	A/G	—	not provided
rs61726456	12:53,040,545	A/T	—	not provided
rs137852630	12:53,040,558	T/G	missense variant	pathogenic
rs144860513	12:53,040,561	C/T	—	uncertain significance
rs2120939967	12:53,040,563	A/T	—	likely pathogenic
rs60537449	12:53,040,566	T/A	—	not provided
rs56829062	12:53,040,567	C/T	missense variant	pathogenic
rs200777244	12:53,040,588	C/A	—	uncertain significance
rs755662199	12:53,040,620	C/T	—	likely benign
rs747898157	12:53,040,638	G/C	—	uncertain significance
rs2498600001	12:53,040,668	A/C	—	uncertain significance
rs2232557	12:53,040,704	C/T	—	benign
rs750086488	12:53,040,711	C/T	—	uncertain significance
rs143712313	12:53,040,712	G/A	—	benign
rs779620526	12:53,040,719	G/C	—	likely benign
rs753957075	12:53,040,721	G/A	—	benign
rs372823150	12:53,040,744	A/G	—	uncertain significance
rs759623198	12:53,040,748	T/C	—	benign
rs2232556	12:53,040,751	C/A	—	benign
rs61929583	12:53,041,492	G/A	—	benign
rs753421351	12:53,041,532	G/C	—	uncertain significance
rs777643828	12:53,041,544	C/A	—	likely benign
rs756976713	12:53,041,558	C/T	—	likely benign
rs375452938	12:53,041,559	G/A	—	benign
rs527533989	12:53,041,615	C/T	—	benign
rs138774076	12:53,041,616	G/A	—	benign
rs140280463	12:53,041,941	C/T	—	benign
rs1237983649	12:53,041,965	G/T	—	uncertain significance
rs746275855	12:53,041,973	G/A	—	uncertain significance
rs2498602354	12:53,041,977	C/T	—	likely benign
rs150782089	12:53,041,978	C/T	—	benign
rs2498602373	12:53,041,985	T/C	—	uncertain significance
rs761345251	12:53,041,990	G/C	—	uncertain significance
rs1197324019	12:53,042,009	T/C	—	uncertain significance
rs766282919	12:53,042,013	A/G	—	uncertain significance
rs751634621	12:53,042,028	C/T	—	uncertain significance
rs2498602614	12:53,042,103	G/C	—	benign
rs12424544	12:53,042,437	C/A	—	benign
rs184298897	12:53,042,775	G/A	—	benign
rs139316403	12:53,042,808	T/C	—	benign
rs367546338	12:53,042,874	C/T	—	likely benign
rs760110296	12:53,042,883	C/T	—	uncertain significance
rs765620105	12:53,042,884	G/A	—	uncertain significance
rs632952	12:53,043,636	G/A	—	benign
rs556825530	12:53,043,692	G/C	—	likely benign
rs978464279	12:53,043,727	C/T	—	uncertain significance
rs2232551	12:53,043,736	G/C	—	benign
rs370365886	12:53,043,775	G/A	—	likely benign
rs1242347501	12:53,044,114	G/C	—	uncertain significance
rs2498605635	12:53,044,123	T/G	—	uncertain significance
rs886049631	12:53,044,155	G/A	—	uncertain significance

Showing 100 of 156 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.