MSH2 c.440T>C ;(p.V147A)

Variant ID: 2-47637306-T-C

NM_000251.2(MSH2):c.440T>C;(p.V147A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Barley Chloroplast Mutator (cpm) Mutant: All Roads Lead to the Msh1 Gene.

International Journal Of Molecular Sciences
Lencina, Franco F; Landau, Alejandra A; Prina, Alberto R AR
Publication Date: 2022-02-05

Variant appearance in text: MSH2: V147A
PubMed Link: 35163736
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Barley Chloroplast Mutator (cpm) Mutant: All Roads Lead to the Msh1 Gene.

International Journal Of Molecular Sciences
Lencina, Franco F; Landau, Alejandra A; Prina, Alberto R AR
Publication Date: 2022-02-05

Variant appearance in text: MSH2: V147A
PubMed Link: 35163736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 440T>C; Val147Ala
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.

Journal Of Experimental & Clinical Cancer Research : Cr
Zaravinos, Apostolos A; Roufas, Constantinos C; Nagara, Majdi M; de Lucas Moreno, Beatriz B; Oblovatskaya, Maria M; Efstathiades, Christodoulos C; Dimopoulos, Christos C; Ayiomamitis, Georgios D GD
Publication Date: 2019-08-20

Variant appearance in text: MSH2: Val147Ala
PubMed Link: 31429779
Variant Present in the following documents:
  • 13046_2019_1372_MOESM18_ESM.xlsx, sheet 2
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: MSH2: V147A
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 3
View BVdb publication page