MSH2 c.339G>C ;(p.K113N)

Variant ID: 2-47635667-G-C

NM_000251.2(MSH2):c.339G>C;(p.K113N)

This variant was identified in 3 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: 339G>C; Lys113Asn
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: MSH2: 339G>C; Lys113Asn
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



Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Npj Precision Oncology
Nagano, Masaaki M; Kohsaka, Shinji S; Hayashi, Takuo T; Ueno, Toshihide T; Kojima, Shinya S; Shinozaki-Ushiku, Aya A; Morita, Shigeki S; Tsuda, Masumi M; Tanaka, Shinya S; Shinohara, Toshiya T; Omori, Yuko Y; Sugaya, Fumiko F; Kato, Hiroaki H; Narita, Yoshiaki Y; Nakajima, Jun J; Suzuki, Kenji K; Takamochi, Kazuya K; Mano, Hiroyuki H
Publication Date: 2021-06-22

Variant appearance in text: MSH2: 339G>C; Lys113Asn
PubMed Link: 34158601
Variant Present in the following documents:
  • 41698_2021_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page