Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.R54L
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CRYAA

NM_000394.4:p.R54L

Associated Papers

Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.

Abrol K et al.

The Protein Journal, 2024

Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.

Budnar P et al.

Biochemistry. Biokhimiia, 2022

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial cells.

Zhao Z et al.

Molecular Vision, 2022

Importance of the positively charged residue at position 54 to the chaperoning function, conformational stability and amyloidogenic nature of human αA-crystallin.

Khoshaman K et al.

Journal of Biochemistry, 2018

The impact of different mutations at Arg54 on structure, chaperone-like activity and oligomerization state of human αA-crystallin: The pathomechanism underlying congenital cataract-causing mutations R54L, R54P and R54C.

Khoshaman K et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

Javadiyan S et al.

Bmc Research Notes, 2016

Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.

Andley UP et al.

Biochimica Et Biophysica Acta, 2016

Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.

Liao J et al.

Human Molecular Genetics, 2014

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Yang Z et al.

Current Eye Research, 2013

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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."