MSH2 c.163_165delinsGAC ;(p.R55D)

Variant ID: 2-47630493-CGG-GAC

NM_000251.2(MSH2):c.163_165delinsGAC;(p.R55D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: R55D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



MutS/MutL crystal structure reveals that the MutS sliding clamp loads MutL onto DNA.

Elife
Groothuizen, Flora S FS; Winkler, Ines I; Cristóvão, Michele M; Fish, Alexander A; Winterwerp, Herrie H K HH; Reumer, Annet A; Marx, Andreas D AD; Hermans, Nicolaas N; Nicholls, Robert A RA; Murshudov, Garib N GN; Lebbink, Joyce H G JH; Friedhoff, Peter P; Sixma, Titia K TK
Publication Date: 2015-07-11

Variant appearance in text: MSH2: R55D
PubMed Link: 26163658
Variant Present in the following documents:
  • Main text
  • elife06744.pdf
View BVdb publication page