Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.K500R
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MYOC

NM_000261.2:p.K500R

Associated Papers

Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.

Asiamah R et al.

Ophthalmic Genetics, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

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

Myocilin misfolding and glaucoma: A 20-year update.

Saccuzzo EG et al.

Progress in Retinal and Eye Research, 2023

Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Scelsi HF et al.

Disease Models & Mechanisms, 2023

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

Scelsi HF et al.

Human Mutation, 2021

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

MYOC mutations in black south african patients with primary open-angle glaucoma: genetic testing and cascade screening.

Williams SE et al.

Ophthalmic Genetics, 2015

Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Liu W et al.

Molecular Vision, 2012

Myocilin mutations in black South Africans with POAG.

Whigham BT et al.

Molecular Vision, 2011

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."