Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y479H
Back to variants list

MYOC

NM_000261.2:p.Y479H

Associated Papers

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

Myocilin misfolding and glaucoma: A 20-year update.

Saccuzzo EG et al.

Progress in Retinal and Eye Research, 2023

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Scelsi HF et al.

Human Mutation, 2021

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E et al.

Molecular Vision, 2013

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

McDonald KK et al.

Journal of Human Genetics, 2010

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Lopez-Martinez F et al.

Molecular Vision, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."