Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.R890C
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EPHA2

NM_004431.5:p.R890C

Associated Papers

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

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

Zhang JJ et al.

International Journal of Ophthalmology, 2024

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

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

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Berry V et al.

Ophthalmic Genetics, 2018

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

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s005.xlsx › S5a._Cat__1__all

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Bu J et al.

Indian Journal of Ophthalmology, 2016

A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.

Shentu XC et al.

International Journal of Ophthalmology, 2013

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.

Dave A et al.

Plos One, 2013

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."