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.




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
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