Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R470C
Back to variants list

MYOC

NM_000261.2:p.R470C

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

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

Prevalence of MYOC risk variants for glaucoma in different populations.

Liuska PJ et al.

Acta Ophthalmologica, 2021

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

Scelsi HF et al.

Human Mutation, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

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

Stothert AR et al.

Experimental Eye Research, 2016

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K et al.

Human Mutation, 2002

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

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

The genetics of pigment dispersion syndrome and pigmentary glaucoma.

Lascaratos G et al.

Survey of Ophthalmology, 0

Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.

Olawoye O et al.

Ophthalmology. Glaucoma, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."