MSH2 c.301G>C ;(p.E101Q)

Variant ID: 2-47635629-G-C

NM_000251.2(MSH2):c.301G>C;(p.E101Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: MSH2: 301G>C; E101Q
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: 301G>C; E101Q
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Screening of germline mutations in young Rwandan patients with breast cancers.

Molecular Genetics & Genomic Medicine
Uyisenga, Jeanne P JP; Segers, Karin K; Lumaka, Aimé Z AZ; Mugenzi, Pacifique P; Fasquelle, Corinne C; Boujemila, Bouchra B; Josse, Claire C; Mutesa, Leon L; Bours, Vincent V
Publication Date: 2020-11

Variant appearance in text: MSH2: 301G>C; Glu101Gln
PubMed Link: 32959997
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1500.pdf
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: E101Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page