Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.F369L
Back to variants list

MYOC

NM_000261.2:p.F369L

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

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients.

Hamanaka T et al.

Investigative Ophthalmology & Visual Science, 2017

Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.

Cheng JW et al.

Plos One, 2012

Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

Mengkegale M et al.

Molecular Vision, 2008

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

Funayama T et al.

Investigative Ophthalmology & Visual Science, 2006

[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].

Yasuda N et al.

Nippon Ganka Gakkai Zasshi, 2006

Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.

Ishikawa K et al.

Journal of Glaucoma, 2004

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."