Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L255P
Back to variants list

MYOC

NM_000261.2:p.L255P

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

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

Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

Moon S et al.

International Journal of Ophthalmology, 2020

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Park J et al.

Molecular Medicine Reports, 2016

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."