Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.A785T
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EPHA2

NM_004431.5:p.A785T

Associated Papers

Frequent EPHA2 receptor mutations in cholangiocarcinoma disrupt receptor forward signaling supporting a tumor suppressor role.

Koutouan E et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2026

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

Frequent EPHA2 receptor mutations in cholangiocarcinoma disrupt receptor forward signaling supporting a tumor suppressor role.

Koutouan E et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Zhang JJ et al.

International Journal of Ophthalmology, 2024

Therapeutic targeting of ARID1A and PI3K/AKT pathway alterations in cholangiocarcinoma.

Tessiri S et al.

Peerj, 2022

35070505 (PubMed )
Supplement: peerj-10-12750-s003.xlsx › Supplemental_Table1

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

Murugan S et al.

Frontiers in Cell and Developmental Biology, 2022

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.

Jarwar P et al.

International Journal of Molecular Sciences, 2021

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

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

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul H et al.

Molecular Vision, 2010

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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