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MYOC c.1441C>A ;(p.P481T)
Variant ID: 1-171605139-G-T
NM_000261.1(
MYOC
):c.1441C>A;(p.P481T)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: MYOC: P481T
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
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: P481T
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: P481T
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: P481T
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Molecular Vision
Xie, Xiaobing X; Zhou, Xin X; Qu, Xiying X; Wen, Jing J; Tian, Yanli Y; Zheng, Fang F
Publication Date: 2008-09-05
Variant appearance in text: MYOC: Pro481Thr
PubMed Link:
18776955
Variant Present in the following documents:
Main text
mv-v14-1666.pdf
View BVdb publication page