Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T377K
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MYOC

NM_000261.2:p.T377K

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

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence.

Gupta V et al.

Indian Journal of Ophthalmology, 2024

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

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

Scelsi HF et al.

Human Mutation, 2021

[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].

Zhang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.

Waryah AM et al.

Gene, 2013

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Vincent AL et al.

American Journal of Human Genetics, 2002

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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."