Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.S39C
Back to variants list

CRYGS

NM_017541.4:p.S39C

Associated Papers

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

Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.

Wu J et al.

Biomolecules, 2023

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

Roskamp KW et al.

Biochemistry, 2020

The cataract-related S39C variant increases γS-crystallin sensitivity to environmental stress by destroying the intermolecular disulfide cross-links.

Yang X et al.

Biochemical and Biophysical Research Communications, 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

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

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

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

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

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Devi RR et al.

Molecular Vision, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."