Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.C81S
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CAPN5

NM_004055.5:p.C81S

Associated Papers

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.

Velez G et al.

Cell Reports, 2020

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Velez G et al.

Cold Spring Harbor Molecular Case Studies, 2018

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Wert KJ et al.

Human Molecular Genetics, 2015

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB et al.

Plos Genetics, 2012

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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."