Bibliome.ai browser hg19
Search
About
Stats
FAQ
MYOC c.1139A>G ;(p.D380G)
Variant ID: 1-171605441-T-C
NM_000261.1(
MYOC
):c.1139A>G;(p.D380G)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: D380G
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: D380G
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: D380G
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: D380G
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: D380G
PubMed Link:
22615763
Variant Present in the following documents:
Main text
pone.0036301.pdf
View BVdb publication page
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
American Journal Of Ophthalmology
Wirtz, Mary K MK; Samples, John R JR; Choi, Dongseok D; Gaudette, N Donna ND
Publication Date: 2007-07
Variant appearance in text: MYOC: Asp380Gly
PubMed Link:
17499207
Variant Present in the following documents:
Main text
View BVdb publication page