MSH2 c.2108C>A ;(p.S703Y)

Variant ID: 2-47703608-C-A

NM_000251.2(MSH2):c.2108C>A;(p.S703Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: S703Y
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: rs267607999
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: S703Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.

Oncology Letters
Zhang, Xiaomei X; Chen, Senqing S; Yu, Jun J; Zhang, Yuanying Y; Lv, Min M; Zhu, Ming M
Publication Date: 2018-05

Variant appearance in text: MSH2: 2108C>A; S703Y
PubMed Link: 29731845
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the study of Lynch syndrome in China.

World Journal Of Gastroenterology
Lu, Jun-Yu JY; Sheng, Jian-Qiu JQ
Publication Date: 2015-06-14

Variant appearance in text: MSH2: 2108C>A
PubMed Link: 26078562
Variant Present in the following documents:
  • Main text
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: 2108C>A
PubMed Link: 23760103
Variant Present in the following documents:
  • Main text
  • ol-05-05-1710.pdf
View BVdb publication page