Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.S143C
Back to variants list

MYOC

NM_000261.2:p.S143C

Associated Papers

Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.

Hill KR et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Sazhnyev Y et al.

Genes, 2024

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

Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

Cyrta J et al.

The Journal of Pathology, 2022

35220606 (PubMed )
Supplement: PATH-257-274-s001.xlsx › S3_WES_SNV-clonality

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: Table3.xlsx › Sheet1

Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.

Tanji T et al.

Genes, 2021

Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants.

Lieberman RL et al.

Accounts of Chemical Research, 2021

Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.

Yan X et al.

Molecular Vision, 2020

Differential Misfolding Properties of Glaucoma-Associated Olfactomedin Domains from Humans and Mice.

Patterson-Orazem AC et al.

Biochemistry, 2019

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

Stothert AR et al.

Experimental Eye Research, 2016

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

Glaucomatous MYOC mutations activate the IL-1/NF-κB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.

Itakura T et al.

Molecular Vision, 2015

The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.

Hill SE et al.

Journal of Molecular Biology, 2014

The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.

Donegan RK et al.

The Journal of Biological Chemistry, 2012

The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Burns JN et al.

Biochemistry, 2011

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.

Gobeil S et al.

Experimental Eye Research, 2006

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."