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MYOC c.1504T>C ;(p.S502P)
Variant ID: 1-171605076-A-G
NM_000261.1(
MYOC
):c.1504T>C;(p.S502P)
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:
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Genes
Tanji, Tarin T; Cohen, Emily E; Shen, Darrick D; Zhang, Chi C; Yu, Fei F; Coleman, Anne L AL; Zheng, Jie J JJ
Publication Date: 2021-11-16
Variant appearance in text: MYOC: S502P
PubMed Link:
34828408
Variant Present in the following documents:
Main text
genes-12-01802.pdf
View BVdb publication page
Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).
International Journal Of Molecular Medicine
Wang, Hongwei H; Li, Mingzhe M; Zhang, Zhenzhen Z; Xue, Haifeng H; Chen, Xing X; Ji, Yong Y
Publication Date: 2019-02
Variant appearance in text: MYOC: Ser502Pro
PubMed Link:
30483726
Variant Present in the following documents:
Main text
ijmm-43-02-0671.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: S502P
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: S502P
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: S502P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page