Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.G586_Y587insFs
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KRT1

NM_006121.4:p.G586_Y587insFs

Associated Papers

A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Yang Z et al.

Clinical and Experimental Dermatology, 2020

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Renz P et al.

Journal of Cellular and Molecular Medicine, 2019

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1.

Suzuki S et al.

The Journal of Investigative Dermatology, 2016

Expanding the Mutation Spectrum of Ichthyosis with Confetti.

Lim YH et al.

The Journal of Investigative Dermatology, 2016

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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."