Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.Y118D
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CRYAA

NM_000394.4:p.Y118D

Associated Papers

Reversible cold-induced lens opacity in a hibernator reveals a molecular target for treating cataracts.

Yang H et al.

The Journal of Clinical Investigation, 2024

Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.

Li L et al.

Molecular Genetics and Genomics : Mgg, 2023

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

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

Jia ZK et al.

Zoological Research, 2021

Age-dependent racemization of serine residues in a human chaperone protein.

Hooi MY et al.

Protein Science : a Publication of the Protein Society, 2013

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.

Andley UP

Bmc Ophthalmology, 2009

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

Richter L et al.

American Journal of Medical Genetics. Part A, 2008

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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."