MYOC c.1025G>A ;(p.R342K)

Variant ID: 1-171605555-C-T

NM_000261.1(MYOC):c.1025G>A;(p.R342K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Pro-fibrotic pathway activation in trabecular meshwork and lamina cribrosa is the main driving force of glaucoma.

Cell Cycle (Georgetown, Tex.)
Zhavoronkov, Alex A; Izumchenko, Evgeny E; Kanherkar, Riya R RR; Teka, Mahder M; Cantor, Charles C; Manaye, Kebreten K; Sidransky, David D; West, Michael D MD; Makarev, Eugene E; Csoka, Antonei Benjamin AB
Publication Date: 2016-06-17

Variant appearance in text: MYOC: R342K
PubMed Link: 27229292
Variant Present in the following documents:
  • Main text
  • kccy-15-12-1170261.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: GLC1A: R342K
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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

Experimental Eye Research
Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA
Publication Date: 2016-03

Variant appearance in text: MYOC: R342K
PubMed Link: 26302411
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYOC: R342K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Journal Of Ocular Pharmacology And Therapeutics : The Official Journal Of The Association For Ocular Pharmacology And Therapeutics
Borrás, Teresa T
Publication Date: 2014

Variant appearance in text: MYOC: R342K
PubMed Link: 24564495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Plos One
Kennedy, K David KD; AnithaChristy, S A SA; Buie, Lakisha K LK; Borrás, Teresa T
Publication Date: 2012

Variant appearance in text: MYOC: R342K
PubMed Link: 22615763
Variant Present in the following documents:
  • Main text
  • pone.0036301.pdf
View BVdb publication page



Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.

Plos One
Carbone, Mary Anna MA; Ayroles, Julien F JF; Yamamoto, Akihiko A; Morozova, Tatiana V TV; West, Steven A SA; Magwire, Michael M MM; Mackay, Trudy F C TF; Anholt, Robert R H RR
Publication Date: 2009

Variant appearance in text: MYOC: R342K
PubMed Link: 19148291
Variant Present in the following documents:
  • Main text
View BVdb publication page