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ATM c.5677T>G ;(p.S1893A)
Variant ID: 11-108178626-T-G
NM_000051.3(
ATM
):c.5677T>G;(p.S1893A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance.
Biomed Research International
Di Domenico, Enea Gino EG; Romano, Elena E; Del Porto, Paola P; Ascenzioni, Fiorentina F
Publication Date: 2014
Variant appearance in text: ATM: S1893A
PubMed Link:
25247188
Variant Present in the following documents:
Main text
View BVdb publication page
Kinase-dead ATM protein causes genomic instability and early embryonic lethality in mice.
The Journal Of Cell Biology
Yamamoto, Kenta K; Wang, Yunyue Y; Jiang, Wenxia W; Liu, Xiangyu X; Dubois, Richard L RL; Lin, Chyuan-Sheng CS; Ludwig, Thomas T; Bakkenist, Christopher J CJ; Zha, Shan S
Publication Date: 2012-08-06
Variant appearance in text: ATM: S1893A
PubMed Link:
22869596
Variant Present in the following documents:
Main text
JCB_201204098.pdf
View BVdb publication page
Dynamics of the PI3K-like protein kinase members ATM and DNA-PKcs at DNA double strand breaks.
Cell Cycle (Georgetown, Tex.)
Davis, Anthony J AJ; So, Sairei S; Chen, David J DJ
Publication Date: 2010-07-01
Variant appearance in text: ATM: S1893A
PubMed Link:
20543558
Variant Present in the following documents:
Main text
View BVdb publication page
Involvement of novel autophosphorylation sites in ATM activation.
The Embo Journal
Kozlov, Sergei V SV; Graham, Mark E ME; Peng, Cheng C; Chen, Philip P; Robinson, Phillip J PJ; Lavin, Martin F MF
Publication Date: 2006-08-09
Variant appearance in text: ATM: S1893A
PubMed Link:
16858402
Variant Present in the following documents:
Main text
View BVdb publication page