Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.Y98D
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KRT17

NM_000422.3:p.Y98D

Associated Papers

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_MOESM5_ESM.xlsx › S4

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

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

[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].

Swensson O

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 1999

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Covello SP et al.

The British Journal of Dermatology, 1998

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ et al.

The Journal of Investigative Dermatology, 1997

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

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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."