Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.D340G
Back to variants list

KRT1

NM_006121.4:p.D340G

Associated Papers

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.

Bolling MC et al.

The British Journal of Dermatology, 2010

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."