MSH2 c.683A>G ;(p.K228R)

Variant ID: 2-47639590-A-G

NM_000251.2(MSH2):c.683A>G;(p.K228R)

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: 683A>G; Lys228Arg
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Transcriptional differentiation of Trypanosoma brucei during in vitro acquisition of resistance to acoziborole.

Plos Neglected Tropical Diseases
Steketee, Pieter C PC; Giordani, Federica F; Vincent, Isabel M IM; Crouch, Kathryn K; Achcar, Fiona F; Dickens, Nicholas J NJ; Morrison, Liam J LJ; MacLeod, Annette A; Barrett, Michael P MP
Publication Date: 2021-11

Variant appearance in text: MSH2: 683A>G
PubMed Link: 34752454
Variant Present in the following documents:
  • pntd.0009939.s005.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: K228R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page