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MSH6 c.481A>G ;(p.K161E)
Variant ID: 2-48023056-A-G
NM_000179.2(
MSH6
):c.481A>G;(p.K161E)
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:
A Lynch syndrome-associated mutation at a Bergerat ATP-binding fold destabilizes the structure of the DNA mismatch repair endonuclease MutL.
The Journal Of Biological Chemistry
Izuhara, Keisuke K; Fukui, Kenji K; Murakawa, Takeshi T; Baba, Seiki S; Kumasaka, Takashi T; Uchiyama, Kazuhisa K; Yano, Takato T
Publication Date: 2020-08-14
Variant appearance in text: MSH6: K161E
PubMed Link:
32571878
Variant Present in the following documents:
Main text
View BVdb publication page