Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.S425P
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MYOC

NM_000261.2:p.S425P

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

Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Zhou B et al.

Frontiers in Genetics, 2022

36267417 (PubMed )
Supplement: Table1.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

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI-_

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."