Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.Y449C
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KRT10

NM_000421.5:p.Y449C

Associated Papers

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Xiang R et al.

Acta Dermato-venereologica, 2025

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

Diociaiuti A et al.

International Journal of Molecular Sciences, 2020

Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis.

Takemoto K et al.

European Journal of Dermatology : Ejd, 2019

In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.

Banerjee S et al.

Oncotarget, 2016

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H et al.

The Journal of Investigative Dermatology, 2015

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ et al.

The British Journal of Dermatology, 2011

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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."