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ATM c.8263_8264delinsGC ;(p.Y2755A)
Variant ID: 11-108206683-TA-GC
NM_000051.3(
ATM
):c.8263_8264delinsGC;(p.Y2755A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.
Molecular Cell
Zhou, Yi Y; Lee, Ji-Hoon JH; Jiang, Wenxia W; Crowe, Jennie L JL; Zha, Shan S; Paull, Tanya T TT
Publication Date: 2017-01-05
Variant appearance in text: ATM: Y2755A
PubMed Link:
27939942
Variant Present in the following documents:
Main text
View BVdb publication page
Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex.
The Journal Of Biological Chemistry
Lee, Ji-Hoon JH; Mand, Michael R MR; Deshpande, Rajashree A RA; Kinoshita, Eri E; Yang, Soo-Hyun SH; Wyman, Claire C; Paull, Tanya T TT
Publication Date: 2013-05-03
Variant appearance in text: ATM: Y2755A
PubMed Link:
23525106
Variant Present in the following documents:
Main text
zbc12840.pdf
View BVdb publication page
Requirement of ATM for rapid p53 phosphorylation at Ser46 without Ser/Thr-Gln sequences.
Molecular And Cellular Biology
Kodama, Masami M; Otsubo, Chihiro C; Hirota, Toru T; Yokota, Jun J; Enari, Masato M; Taya, Yoichi Y
Publication Date: 2010-04
Variant appearance in text: ATM: Y2755A
PubMed Link:
20123963
Variant Present in the following documents:
Main text
View BVdb publication page