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MYOC c.1442C>T ;(p.P481L)
Variant ID: 1-171605138-G-A
NM_000261.1(
MYOC
):c.1442C>T;(p.P481L)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Disease Models & Mechanisms
Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL
Publication Date: 2022-12-29
Variant appearance in text: MYOC: P481L
PubMed Link:
36579626
Variant Present in the following documents:
dmm-16-049816-s1.pdf
View BVdb publication page
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: P481L
PubMed Link:
34828408
Variant Present in the following documents:
Main text
genes-12-01802.pdf
View BVdb publication page
Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.
The Application Of Clinical Genetics
Kondkar, Altaf A AA
Publication Date: 2021
Variant appearance in text: MYOC: Pro481Leu
PubMed Link:
33727852
Variant Present in the following documents:
Main text
tacg-14-89.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: Pro481Leu
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: P481L
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
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: P481L
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: Pro481Leu
PubMed Link:
18776955
Variant Present in the following documents:
Main text
mv-v14-1666.pdf
View BVdb publication page