Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L486F
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MYOC

NM_000261.2:p.L486F

Associated Papers

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Experimental Eye Research, 2025

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Biorxiv : the Preprint Server for Biology, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.

Pyatla G et al.

International Journal of Molecular Sciences, 2024

39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S4_INPP5E_reported_phenotypes.xlsx › Sheet1

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

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.

Liuska PJ et al.

Acta Ophthalmologica, 2023

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

The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.

Rozpędek-Kamińska W et al.

International Journal of Molecular Sciences, 2020

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

Research progress on human genes involved in the pathogenesis of glaucoma (Review).

Wang HW et al.

Molecular Medicine Reports, 2018

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.

Liao RF et al.

Chinese Medical Journal, 2016

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Yang Y et al.

Gene, 2015

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Huang X et al.

Investigative Ophthalmology & Visual Science, 2014

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.

Li X et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 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."