Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y473C
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MYOC

NM_000261.2:p.Y473C

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

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

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

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."