Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.K199R
Back to variants list

KRT5

NM_000424.4:p.K199R

Associated Papers

Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.

Zhang W et al.

Frontiers in Chemistry, 2021

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

Has C et al.

Acta Dermato-venereologica, 2018

A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

Deng W et al.

Journal of Dermatological Science, 2011

A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.

Bowden PE et al.

Experimental Dermatology, 2009

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."