MYOC c.1009C>T ;(p.Q337*)

Variant ID: 1-171605571-G-A

NM_000261.1(MYOC):c.1009C>T;(p.Q337*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYOC: Q337*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: MYOC: 1009C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

International Journal Of Ophthalmology
Yao, Yi-Hua YH; Wang, Ya-Qin YQ; Fang, Wei-Fang WF; Zhang, Liu L; Yang, Ju-Hua JH; Zhu, Yi-Hua YH
Publication Date: 2018

Variant appearance in text: MYOC: Q337X
PubMed Link: 29600168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.

Molecular Vision
Wei, Yan-Tao YT; Li, Yi-Qing YQ; Bai, Yu-Jing YJ; Wang, Mei M; Chen, Jun-Hong JH; Ge, Jian J; Zhuo, Ye-Hong YH
Publication Date: 2011

Variant appearance in text: MYOC: Q337X
PubMed Link: 21677793
Variant Present in the following documents:
  • Main text
  • mv-v17-1449.pdf
View BVdb publication page



Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Molecular Vision
Zhao, Xin X; Yang, Chaoshan C; Tong, Yi Y; Zhang, Xiaohui X; Xu, Liang L; Li, Yang Y
Publication Date: 2010-08-25

Variant appearance in text: MYOC: Q337X
PubMed Link: 20806035
Variant Present in the following documents:
  • Main text
View BVdb publication page