MLH1 c.379_380delinsGA ;(p.R127E)

Variant ID: 3-37045964-AG-GA

NM_000249.3(MLH1):c.379_380delinsGA;(p.R127E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

Nucleic Acids Research
Plotz, Guido G; Welsch, Christoph C; Giron-Monzon, Luis L; Friedhoff, Peter P; Albrecht, Mario M; Piiper, Albrecht A; Biondi, Ricardo M RM; Lengauer, Thomas T; Zeuzem, Stefan S; Raedle, Jochen J
Publication Date: 2006

Variant appearance in text: MLH1: R127E
PubMed Link: 17135187
Variant Present in the following documents:
  • Main text
  • gkl944.pdf
View BVdb publication page