Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.R117H
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CRYAA

NM_000394.4:p.R117H

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

35281256 (PubMed )
Supplement: DataSheet1.docx

Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.

Jia ZK et al.

Zoological Research, 2021

The genetic landscape of crystallins in congenital cataract.

Berry V et al.

Orphanet Journal of Rare Diseases, 2020

Differential role of arginine mutations on the structure and functions of α-crystallin.

Panda AK et al.

Biochimica Et Biophysica Acta, 2016

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

Yang Z et al.

Current Eye Research, 2013

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

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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."