Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y46D
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CRYGC

NM_020989.4:p.Y46D

Associated Papers

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.

Ma S et al.

Frontiers in Medicine, 2025

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F et al.

International Journal of Molecular Sciences, 2023

The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts.

Vendra VPR et al.

Biochemistry, 2023

A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.

Zhou Z et al.

Ophthalmology Science, 2022

Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin.

Fu C et al.

Biochemical and Biophysical Research Communications, 2021

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.

Zhong Z et al.

Scientific Reports, 2017

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Zhang L 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."