MYOC c.764T>C ;(p.L255P)

Variant ID: 1-171605816-A-G

NM_000261.1(MYOC):c.764T>C;(p.L255P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

International Journal Of Ophthalmology
Moon, Sangwoo S; Kim, Namhee N; Lee, Jiwoong J
Publication Date: 2020

Variant appearance in text: MYOC: Leu255Pro
PubMed Link: 33214997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Molecular Medicine Reports
Park, Joonhong J; Kim, Myungshin M; Park, Chan Kee CK; Chae, Hyojin H; Lee, Seungok S; Kim, Yonggoo Y; Jang, Woori W; Chi, Hyun Young HY; Park, Hae-Young Lopilly HY; Park, Shin Hae SH
Publication Date: 2016-09

Variant appearance in text: MYOC: 764T>C
PubMed Link: 27485216
Variant Present in the following documents:
  • Main text
  • mmr-14-03-2439.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: MYOC: L255P
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page