MLH1 c.347C>G ;(p.T116R)

Variant ID: 3-37045932-C-G

NM_000249.3(MLH1):c.347C>G;(p.T116R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: MLH1: T116R
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: HNPCC2: T116R; rs63750465
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.

Cancer Biology & Therapy
Arora, Sanjeevani S; Huwe, Peter J PJ; Sikder, Rahmat R; Shah, Manali M; Browne, Amanda J AJ; Lesh, Randy R; Nicolas, Emmanuelle E; Deshpande, Sanat S; Hall, Michael J MJ; Dunbrack, Roland L RL; Golemis, Erica A EA
Publication Date: 2017-07-03

Variant appearance in text: MLH1: 347C>G; Thr116Arg
PubMed Link: 28494185
Variant Present in the following documents:
  • Main text
View BVdb publication page