MSH2 c.971A>G ;(p.Q324R)

Variant ID: 2-47643463-A-G

NM_000251.2(MSH2):c.971A>G;(p.Q324R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: MSH2: 971A>G; Gln324Arg
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.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: 971A>G; Q324R
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
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: Q324R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.

Free Radical Biology & Medicine
Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS
Publication Date: 2017-06

Variant appearance in text: MSH2: Q324R
PubMed Link: 28087410
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Frontiers In Oncology
Venesio, Tiziana T; Balsamo, Antonella A; D'Agostino, Vito G VG; Ranzani, Guglielmina N GN
Publication Date: 2012

Variant appearance in text: MSH2: Q324R
PubMed Link: 22876359
Variant Present in the following documents:
  • fonc-02-00083.pdf
View BVdb publication page



Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Dna Repair
Kundu, Sucharita S; Brinkmeyer, Megan K MK; Livingston, Alison L AL; David, Sheila S SS
Publication Date: 2009-12-03

Variant appearance in text: MSH2: Q324R
PubMed Link: 19836313
Variant Present in the following documents:
  • Main text
View BVdb publication page