Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.H18L
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CRYAB

NM_001289808.2:p.H18L

Associated Papers

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 2025

The p.K90N mutation in human HSPB5 highlights the critical role of lysine 90 in chaperone function and structural integrity.

Ghaffari AR et al.

Archives of Biochemistry and Biophysics, 2025

Unconventional secretion of α-Crystallin B requires the Autophagic pathway and is controlled by phosphorylation of its serine 59 residue.

D'Agostino M et al.

Scientific Reports, 2019

Inhibition of α-synuclein aggregation by small heat shock proteins.

Bruinsma IB et al.

Proteins, 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."