Varaico: Literature-Extracted Genetic Variants

Gene:KRT3
Variant:p.E498V
Back to variants list

KRT3

NM_057088.3:p.E498V

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.

Abad-Morales V et al.

Cornea, 2021

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Allen EH et al.

Human Molecular Genetics, 2016

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Courtney DG et al.

Gene Therapy, 2016

26289666 (PubMed )
Supplement: gt201582x1.xls › Sheet2

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL et al.

Molecular Vision, 2015

KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

Ogasawara M et al.

American Journal of Ophthalmology, 2014

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.

Cao W et al.

The Journal of International Medical Research, 2013

Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

Clausen I et al.

Molecular Vision, 2010

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

Szaflik JP et al.

Molecular Vision, 2008

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."