MSH6 c.3581T>A ;(p.L1194*)

Variant ID: 2-48032781-T-A

NM_000179.2(MSH6):c.3581T>A;(p.L1194*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: MSH6: L1194*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Plos One
Nakanishi, Hiroyoshi H; Sawada, Takeshi T; Kaizaki, Yasuharu Y; Ota, Ryosuke R; Suzuki, Hiromu H; Yamamoto, Eiichiro E; Aoki, Hironori H; Eizuka, Makoto M; Hasatani, Kenkei K; Takahashi, Naoki N; Inagaki, Satoko S; Ebi, Masahide M; Kato, Hiroyuki H; Kubota, Eiji E; Kataoka, Hiromi H; Takahashi, Satoru S; Tokino, Takashi T; Minamoto, Toshinari T; Sugai, Tamotsu T; Sasaki, Yasushi Y
Publication Date: 2020

Variant appearance in text: MSH6: Leu1194Ter
PubMed Link: 32092099
Variant Present in the following documents:
  • pone.0229262.s007.xlsx, sheet 1
View BVdb publication page