MSH6 c.3452C>T ;(p.A1151V)

Variant ID: 2-48032062-C-T

NM_000179.2(MSH6):c.3452C>T;(p.A1151V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: MSH6: A1151V
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
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: MSH6: 3452C>T; Ala1151Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Maxwell, Jill A JA; Johnson, Stewart P SP; McLendon, Roger E RE; Lister, David W DW; Horne, Krystle S KS; Rasheed, Ahmed A; Quinn, Jennifer A JA; Ali-Osman, Francis F; Friedman, Allan H AH; Modrich, Paul L PL; Bigner, Darell D DD; Friedman, Henry S HS
Publication Date: 2008-08-01

Variant appearance in text: MSH6: A1151V
PubMed Link: 18676759
Variant Present in the following documents:
  • Main text
View BVdb publication page