MSH2 c.1917T>A ;(p.H639Q)

Variant ID: 2-47702321-T-A

NM_000251.2(MSH2):c.1917T>A;(p.H639Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


HideRNAs protect against CRISPR-Cas9 re-cutting after successful single base-pair gene editing.

Scientific Reports
Harmsen, Tim J W TJW; Pritchard, Colin E J CEJ; Riepsaame, Joey J; van de Vrugt, Henri J HJ; Huijbers, Ivo J IJ; Te Riele, Hein H
Publication Date: 2022-06-10

Variant appearance in text: MSH2: H639Q
PubMed Link: 35688932
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_13688.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: 1917T>A; H639Q
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Clinical Impact of X-Ray Repair Cross-Complementary 1 (XRCC1) and the Immune Environment in Colorectal Adenoma-Carcinoma Pathway Progression.

Journal Of Inflammation Research
Zhang, Yu Y; Zhang, Xin X; Jin, Zhuoyi Z; Chen, Huiyan H; Zhang, Chenjing C; Wang, Wangyue W; Jing, Jiyong J; Pan, Wensheng W
Publication Date: 2021

Variant appearance in text: rs1800152
PubMed Link: 34737598
Variant Present in the following documents:
  • Main text
  • jir-14-5403.pdf
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: 1917T>A; H639Q; rs1800152
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
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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: rs1800152
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
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: 1917T>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: 1917T>A; His639Gln
PubMed Link: 23760103
Variant Present in the following documents:
  • Main text
  • ol-05-05-1710.pdf
View BVdb publication page



Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science
Doss, C George Priya CG; Sethumadhavan, Rao R
Publication Date: 2009-04-24

Variant appearance in text: MSH2: H639Q
PubMed Link: 19389263
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-42.pdf
View BVdb publication page