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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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