MLH1 c.1561C>A ;(p.L521I)

Variant ID: 3-37081679-C-A

NM_000249.3(MLH1):c.1561C>A;(p.L521I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters
Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP
Publication Date: 2013-05

Variant appearance in text: MLH1: 1561C>A
PubMed Link: 23760103
Variant Present in the following documents:
  • Main text
  • ol-05-05-1710.pdf
View BVdb publication page



Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer.

European Journal Of Human Genetics : Ejhg
Yoshida, Rintaro R; Miyashita, Kaname K; Inoue, Mayuko M; Shimamoto, Akiyoshi A; Yan, Zhao Z; Egashira, Akinori A; Oki, Eiji E; Kakeji, Yoshishiro Y; Oda, Shinya S; Maehara, Yoshihiko Y
Publication Date: 2011-03

Variant appearance in text: MLH1: Leu521Ile
PubMed Link: 21157497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

Nucleic Acids Research
Oda, Shinya S; Maehara, Yoshihiko Y; Ikeda, Yoichi Y; Oki, Eiji E; Egashira, Akinori A; Okamura, Yoshikazu Y; Takahashi, Ikuo I; Kakeji, Yoshihiro Y; Sumiyoshi, Yasushi Y; Miyashita, Kaname K; Yamada, Yu Y; Zhao, Yan Y; Hattori, Hiroyoshi H; Taguchi, Ken-ichi K; Ikeuchi, Tatsuro T; Tsuzuki, Teruhisa T; Sekiguchi, Mutsuo M; Karran, Peter P; Yoshida, Mitsuaki A MA
Publication Date: 2005

Variant appearance in text: MLH1: L521I
PubMed Link: 15778432
Variant Present in the following documents:
  • gki303.pdf
View BVdb publication page