Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.A94T
Back to variants list

KRT14

NM_000526.5:p.A94T

Associated Papers

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Arline Diana I et al.

The Australasian Journal of Dermatology, 2023

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.

Bchetnia M et al.

Experimental Dermatology, 2020

Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.

Vinci M et al.

Nature Medicine, 2018

29967352 (PubMed )
Supplement: NIHMS77609-supplement-Supplementary_Table_S1.xlsx › Cancer_Cell_Fractions

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 › K14

To avoid a misleading genetic diagnosis of epidermolysis bullosa.

Yamanishi K

International Journal of Dermatology, 2018

Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex.

Zeng K et al.

International Journal of Dermatology, 2014

Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.

Gray C et al.

Journal of Drugs in Dermatology : Jdd, 2011

A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.

Li XL et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007

Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.

Harel A et al.

The Journal of Investigative Dermatology, 2006

[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

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."