Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.V42M
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CRYGS

NM_017541.4:p.V42M

Associated Papers

Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.

Li W et al.

American Journal of Translational Research, 2025

Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract.

Vendra VPR et al.

International Journal of Molecular Sciences, 2023

Human γS-Crystallin-Copper Binding Helps Buffer against Aggregation Caused by Oxidative Damage.

Roskamp KW et al.

Biochemistry, 2020

Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.

Sprague-Piercy MA et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Conformational dynamics study on human γS-crystallin as an efficient route to childhood blindness.

Bari KJ et al.

Biochemical and Biophysical Research Communications, 2019

A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.

Zhang T et al.

Gene, 2018

Sequence specific 1H, 13C and 15N resonance assignments of a cataract-related variant G57W of human γS-crystallin.

Bari KJ et al.

Biomolecular Nmr Assignments, 2018

Multiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant.

Roskamp KW et al.

Investigative Ophthalmology & Visual Science, 2017

Gamma crystallins of the human eye lens.

Vendra VP et al.

Biochimica Et Biophysica Acta, 2016

Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract.

Khan I et al.

Molecular Vision, 2016

A G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family.

Yang Z et al.

Ophthalmic Genetics, 2015

Preferential and specific binding of human αB-crystallin to a cataract-related variant of γS-crystallin.

Kingsley CN et al.

Structure (london, England : 1993), 2013

Structural analysis of the mutant protein D26G of human γS-crystallin, associated with Coppock cataract.

Karri S et al.

Molecular Vision, 2013

The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.

Vendra VP et al.

Plos One, 2012

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Vanita V et al.

Molecular Vision, 2009

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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."