Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.T940I
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EPHA2

NM_004431.5:p.T940I

Associated Papers

Cancer-Related Mutations in the Sam Domains of EphA2 Receptor and Ship2 Lipid Phosphatase: A Computational Study.

Vincenzi M et al.

Molecules (basel, Switzerland), 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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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.s004.xlsx › S4a._Clear__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

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.

Dave A et al.

Molecular Vision, 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

Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.

Park JE et al.

Plos One, 2012

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Zhang T et al.

Human Mutation, 2009

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."