Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.N146D
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CRYAB

NM_001289808.2:p.N146D

Associated Papers

Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?

Claeyssen C et al.

Biochimie, 2024

Identification of the Most Impactful Asparagine Residues for γS-Crystallin Aggregation by Deamidation.

Kato K et al.

Biochemistry, 2023

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

Budnar P et al.

Biochemistry. Biokhimiia, 2022

The chaperone αB-crystallin uses different interfaces to capture an amorphous and an amyloid client.

Mainz A et al.

Nature Structural & Molecular Biology, 2015

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

Kumar PA et al.

Iubmb Life, 2009

A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.

Liu Y et al.

Investigative Ophthalmology & Visual Science, 2006

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

Sun Y et al.

The Febs Journal, 2005

Effect of deamidation of asparagine 146 on functional and structural properties of human lens alphaB-crystallin.

Gupta R et al.

Investigative Ophthalmology & Visual Science, 2004

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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."