MYOC c.271C>T ;(p.R91*)

Variant ID: 1-171621481-G-A

NM_000261.1(MYOC):c.271C>T;(p.R91*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: MYOC: R91*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: MYOC: 271C>T; Arg91Ter
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
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: 271C>T; R91X
PubMed Link: 29600168
Variant Present in the following documents:
  • Main text
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: R91X
PubMed Link: 26302411
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

International Journal Of Molecular Medicine
Wang, Fengyun F; Li, Yang Y; Lan, Lan L; Li, Bo B; Lin, Li L; Lu, Xiaohe X; Li, Jiping J
Publication Date: 2015-05

Variant appearance in text: MYOC: R91X
PubMed Link: 25777973
Variant Present in the following documents:
  • Main text
  • ijmm-35-05-1230.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: R91X
PubMed Link: 20806035
Variant Present in the following documents:
  • Main text
  • mv-v16-1728.pdf
View BVdb publication page