Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.R36S
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CRYGS

NM_017541.4:p.R36S

Associated Papers

An ultraviolet-driven rescue pathway for oxidative stress to eye lens protein human gamma-D crystallin.

Hill JA et al.

Communications Chemistry, 2024

Deamidation of the human eye lens protein γS-crystallin accelerates oxidative aging.

Norton-Baker B et al.

Structure (london, England : 1993), 2022

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

Karri S et al.

Molecular Vision, 2013

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

Vanita V et al.

Molecular Vision, 2009

Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.

Andley UP

Expert Reviews in Molecular Medicine, 2006

Lens crystallins and their microbial homologs: structure, stability, and function.

Jaenicke R et al.

Critical Reviews in Biochemistry and Molecular Biology, 2001

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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."