MLH1 c.484_485delinsGA ;(p.R162E)

Variant ID: 3-37050335-AG-GA

NM_000249.3(MLH1):c.484_485delinsGA;(p.R162E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MutS functions as a clamp loader by positioning MutL on the DNA during mismatch repair.

Nature Communications
Yang, Xiao-Wen XW; Han, Xiao-Peng XP; Han, Chong C; London, James J; Fishel, Richard R; Liu, Jiaquan J
Publication Date: 2022-10-03

Variant appearance in text: MLH1: R162E
PubMed Link: 36192430
Variant Present in the following documents:
  • 41467_2022_Article_33479.pdf
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: MLH1: R162E
PubMed Link: 26163658
Variant Present in the following documents:
  • Main text
  • elife06744.pdf
View BVdb publication page