Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.Y118del1
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CRYAA

NM_000394.4:p.Y118del1

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

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."