MSH2 c.439G>A ;(p.V147I)

Variant ID: 2-47637305-G-A

NM_000251.2(MSH2):c.439G>A;(p.V147I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2022

Variant appearance in text: MSH2: 439G>A; Val147Ile; rs773125415
PubMed Link: 36531003
Variant Present in the following documents:
  • Main text
  • fonc-12-1030786.pdf
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: 439G>A; V147I
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.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: HNPCC1: V147I
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH2: 439G>A; Val147Ile; rs773125415
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 2
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: MSH2: V147I
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page