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ATM c.853C>G ;(p.L285V)
Variant ID: 11-108115705-C-G
NM_000051.3(
ATM
):c.853C>G;(p.L285V)
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:
HMGB1 signaling phosphorylates Ku70 and impairs DNA damage repair in Alzheimer's disease pathology.
Communications Biology
Tanaka, Hikari H; Kondo, Kanoh K; Fujita, Kyota K; Homma, Hidenori H; Tagawa, Kazuhiko K; Jin, Xiaocen X; Jin, Meihua M; Yoshioka, Yuki Y; Takayama, Sumire S; Masuda, Hitomi H; Tokuyama, Rie R; Nakazaki, Yukoh Y; Saito, Takashi T; Saido, Takaomi T; Murayama, Shigeo S; Ikura, Teikichi T; Ito, Nobutoshi N; Yamamori, Yu Y; Tomii, Kentaro K; Bianchi, Marco E ME; Okazawa, Hitoshi H
Publication Date: 2021-10-11
Variant appearance in text: ATM: L285V
PubMed Link:
34635772
Variant Present in the following documents:
Main text
42003_2021_Article_2671.pdf
View BVdb publication page