Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.N186S
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KRT2

NM_000423.3:p.N186S

Associated Papers

The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.

Hashimoto T et al.

The Journal of Dermatology, 2025

Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis.

Vázquez-Osorio I et al.

Pediatric Dermatology, 2022

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation.

Akasaka E et al.

Journal of Dermatological Science, 2015

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene.

Okamura K et al.

Journal of Dermatological Science, 2015

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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."