Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.K116N
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KRT14

NM_000526.5:p.K116N

Associated Papers

Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.

Smith TA et al.

Proteins, 2004

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

Sørensen CB et al.

Experimental Dermatology, 2003

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C et al.

The Australasian Journal of Dermatology, 2002

[Keratin diseases].

Jensen PK et al.

Ugeskrift for Laeger, 2000

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB et al.

Ugeskrift for Laeger, 2000

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Sørensen CB et al.

The Journal of Investigative Dermatology, 1999

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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."