MLH1 c.469_470delinsGC ;(p.Y157A)

Variant ID: 3-37050320-TA-GC

NM_000249.3(MLH1):c.469_470delinsGC;(p.Y157A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional studies and homology modeling of Msh2-Msh3 predict that mispair recognition involves DNA bending and strand separation.

Molecular And Cellular Biology
Dowen, Jill M JM; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2010-07

Variant appearance in text: MLH1: Y157A
PubMed Link: 20421420
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Y157A
PubMed Link: 17135187
Variant Present in the following documents:
  • Main text
  • gkl944.pdf
View BVdb publication page