MSH2 c.1225C>A ;(p.Q409K)

Variant ID: 2-47657029-C-A

NM_000251.2(MSH2):c.1225C>A;(p.Q409K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: 1225C>A; Q409K
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: Q409K
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: 1225C>A; Gln409Lys; rs151244108
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q409K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: Q409K; rs151244108
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters
Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP
Publication Date: 2013-05

Variant appearance in text: MSH2: 1225C>A; Gln409Lys
PubMed Link: 23760103
Variant Present in the following documents:
  • Main text
  • ol-05-05-1710.pdf
View BVdb publication page



Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Bmc Cancer
Jin, Hei-Ying HY; Liu, Xiufang X; Li, Vicky Ka Ming VK; Ding, Yijiang Y; Yang, Bolin B; Geng, Jianxiang J; Lai, Rensheng R; Ding, Shuqing S; Ni, Min M; Zhao, Ronghua R
Publication Date: 2008-02-07

Variant appearance in text: MSH2: 1225C>A
PubMed Link: 18257912
Variant Present in the following documents:
  • Main text
  • 1471-2407-8-44.pdf
View BVdb publication page