Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.P361S
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MYOC

NM_000261.2:p.P361S

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

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

Stothert AR et al.

Experimental Eye Research, 2016

New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.

Qu X et al.

Molecular Biology Reports, 2010

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Xie X et al.

Molecular Vision, 2008

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region.

Green ML et al.

Molecular & Cellular Proteomics : Mcp, 2002

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Jacobson N et al.

Human Molecular Genetics, 2001

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

Fingert JH et al.

Investigative Ophthalmology & Visual Science, 2001

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

Fingert JH et al.

Human Molecular Genetics, 1999

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Alward WL et al.

The New England Journal of Medicine, 1998

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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."