Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.K250N
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CAPN5

NM_004055.5:p.K250N

Associated Papers

Candidate Interaction Partners of Calpain-5 Suggest Clues to Its Involvement in Neovascular Inflammatory Vitreoretinopathy.

Gal J et al.

Cells, 2026

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Maccora I et al.

Ocular Immunology and Inflammation, 2024

Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.

Choi YJ et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.

Geddes JW et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).

Boyce TM et al.

American Journal of Ophthalmology, 2022

Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.

Velez G et al.

Iscience, 2020

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

Velez G et al.

Cell Reports, 2020

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Wert KJ et al.

Human Mutation, 2019

Capn5 Expression in the Healthy and Regenerating Zebrafish Retina.

Coomer CE et al.

Investigative Ophthalmology & Visual Science, 2018

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

Bassuk AG et al.

Plos One, 2015

Inherited retinal disease-associated uveitis.

Hung JH et al.

Survey of Ophthalmology, 0

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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."