Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.N101D
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CRYAA

NM_000394.4:p.N101D

Associated Papers

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

Budnar P et al.

Biochemistry. Biokhimiia, 2022

The common modification in alphaA-crystallin in the lens, N101D, is associated with increased opacity in a mouse model.

Gupta R et al.

The Journal of Biological Chemistry, 2011

Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?

Kumar PA et al.

Iubmb Life, 2009

The small heat shock proteins and their role in human disease.

Sun Y et al.

The Febs Journal, 2005

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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."