MYOC c.473G>A ;(p.R158Q)

Variant ID: 1-171621279-C-T

NM_000261.1(MYOC):c.473G>A;(p.R158Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Frontiers In Genetics
Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y
Publication Date: 2022

Variant appearance in text: MYOC: R158Q
PubMed Link: 36267417
Variant Present in the following documents:
  • Main text
  • fgene-13-1019208.pdf
  • Table2.xlsx, sheet 1
View BVdb publication page



Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology
Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS
Publication Date: 2021

Variant appearance in text: MYOC: 473G>A; R158Q; rs199746824
PubMed Link: 34150614
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: MYOC: 473G>A; R158Q; rs199746824
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: MYOC: 473G>A; Arg158Gln; rs199746824
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MYOC: 473G>A; R158Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: R158Q
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: R158Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Molecular Vision
Cai, Su-ping SP; Muhemaiti, Paerheti P; Yin, Yan Y; Cheng, Hongbo H; Di Ya, A A; Keyimu, Maliyamu M; Cao, Xu X; Fan, Ning N; Jiang, Liqiong L; Yan, Naihong N; Zhou, Xiaomin X; Wang, Yun Y; Liu, Xuyang X
Publication Date: 2012

Variant appearance in text: MYOC: Arg158Gln
PubMed Link: 22876119
Variant Present in the following documents:
  • Main text
  • mv-v18-1944.pdf
View BVdb publication page



Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

Molecular Vision
Chen, Xiaoming X; Yan, Naihong N; Yun, Hongmin H; Sun, Jingjing J; Yu, Man M; Zhou, Jiumo J; Cao, Guiqun G; Yin, Hongbo H; Li, Mao M; Liu, Xuyang X
Publication Date: 2009-08-07

Variant appearance in text: GLC1A: Arg158Gln
PubMed Link: 19668597
Variant Present in the following documents:
  • mv-v15-1530.pdf
View BVdb publication page