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MLH1 c.1267_1268delinsGC ;(p.R423A)
Variant ID: 3-37067356-AG-GC
NM_000249.3(
MLH1
):c.1267_1268delinsGC;(p.R423A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evidence for ATP-dependent structural rearrangement of nuclease catalytic site in DNA mismatch repair endonuclease MutL.
The Journal Of Biological Chemistry
Yamamoto, Tatsuya T; Iino, Hitoshi H; Kim, Kwang K; Kuramitsu, Seiki S; Fukui, Kenji K
Publication Date: 2011-12-09
Variant appearance in text: MLH1: R423A
PubMed Link:
21953455
Variant Present in the following documents:
Main text
View BVdb publication page