Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.R156S
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KRT10

NM_000421.5:p.R156S

Associated Papers

Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation.

Gomez KMU et al.

International Journal of Dermatology, 2024

Genetic testing and new variants in diagnosis of congenital ichthyoses.

Salo M et al.

Molecular Genetics & Genomic Medicine, 2024

Mutations in KRT10 in epidermolytic acanthoma.

Cheraghlou S et al.

Journal of Cutaneous Pathology, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations.

Yeo J et al.

Extreme Mechanics Letters, 2018

Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.

Sun B et al.

Computational and Mathematical Methods in Medicine, 2015

26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Acetylation

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.

Bygum A et al.

Acta Dermato-venereologica, 2013

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-

A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.

Nishizawa A et al.

The British Journal of Dermatology, 2008

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.

Haruna K et al.

The Journal of Dermatology, 2007

Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.

Sun XK et al.

Journal of Dermatological Science, 2002

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

McLean WH et al.

Experimental Dermatology, 1999

Intermediate filaments in disease.

McLean WH et al.

Current Opinion in Cell Biology, 1995

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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."