Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.E170K
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KRT14

NM_000526.5:p.E170K

Associated Papers

Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants.

Jopp H et al.

The British Journal of Dermatology, 2025

Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.

Kumar A et al.

Clinical and Experimental Dermatology, 2025

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K14

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B et al.

The British Journal of Dermatology, 2010

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.

Tang HY et al.

Clinical and Experimental Dermatology, 2009

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB et al.

Human Mutation, 2006

Keratins and skin disorders.

Lane EB et al.

The Journal of Pathology, 2004

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A et al.

The British Journal of Dermatology, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."