Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.R103C
Back to variants list

KRT17

NM_000422.3:p.R103C

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Koprulu M et al.

European Journal of Human Genetics : Ejhg, 2022

Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

Musumeci ML et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2.

Ghazawi FM et al.

International Journal of Dermatology, 2019

Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.

Dabbagh B et al.

Journal of Dentistry for Children (chicago, Ill.), 2019

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

29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K17
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."