Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G545delFs
Back to variants list

KRT5

NM_000424.4:p.G545delFs

Associated Papers

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.

Tang HY et al.

Clinical and Experimental Dermatology, 2009

Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.

Horiguchi Y et al.

The Journal of Investigative Dermatology, 2005

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E et al.

The Journal of Investigative Dermatology, 2003

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."