Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.E934K
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EPHA2

NM_004431.5:p.E934K

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.

Chen C et al.

Investigative Ophthalmology & Visual Science, 2024

Abnormal function of EPHA2/p.R957P mutant in congenital cataract.

Zhang JJ et al.

International Journal of Ophthalmology, 2024

Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.

Murugan S et al.

Frontiers in Cell and Developmental Biology, 2022

A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.

Zhai Y et al.

Investigative Ophthalmology & Visual Science, 2019

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s004.xlsx › S4a._Clear__1__all

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

Li D et al.

Molecular Vision, 2016

Cataract-related mutations in EphA2: a survey of literature data and the relevance of the receptor Sam domain.

Vincenzi M et al.

Expert Opinion on Therapeutic Targets, 0

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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."