Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.I360N
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MYOC

NM_000261.2:p.I360N

Associated Papers

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

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Stothert AR et al.

Experimental Eye Research, 2016

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

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.

Gobeil S et al.

Experimental Eye Research, 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

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Novel mutations in the myocilin gene in Japanese glaucoma patients.

Kubota R et al.

Human Mutation, 2000

Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.

Izumi K et al.

Ophthalmic Research, 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."