Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.E478Q
Back to variants list

KRT1

NM_006121.4:p.E478Q

Associated Papers

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.

Cheng W et al.

Frontiers in Immunology, 2025

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Ge M et al.

Dna and Cell Biology, 2023

Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.

Ansai O et al.

Clinical and Experimental Dermatology, 2023

A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.

Gong L et al.

International Journal of General Medicine, 2021

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.

Caroppo F et al.

Clinical Case Reports, 2020

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

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A et al.

Acta Dermato-venereologica, 2016

A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.

Ji YZ et al.

Clinical and Experimental Dermatology, 2015

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.

Sung JY et al.

Journal of Dermatological Science, 2013

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ et al.

The British Journal of Dermatology, 2011

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."