Varaico: Literature-Extracted Genetic Variants

Gene:CCT2
Variant:p.R516H
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CCT2

NM_006431.3:p.R516H

Associated Papers

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.

Suga A et al.

Communications Biology, 2024

Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.

Roy M et al.

Communications Biology, 2023

CCT2 is an aggrephagy receptor for clearance of solid protein aggregates.

Ma X et al.

Cell, 2022

Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.

Minegishi Y et al.

Investigative Ophthalmology & Visual Science, 2018

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.

Minegishi Y et al.

Scientific Reports, 2016

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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."