ATM c.5959T>C ;(p.S1987P)

Variant ID: 11-108183178-T-C

NM_000051.3(ATM):c.5959T>C;(p.S1987P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.

Cell Death & Disease
Di Siena, Sara S; Campolo, Federica F; Gimmelli, Roberto R; Di Pietro, Chiara C; Marazziti, Daniela D; Dolci, Susanna S; Lenzi, Andrea A; Nussenzweig, Andre A; Pellegrini, Manuela M
Publication Date: 2018-02-22

Variant appearance in text: ATM: S1987p
PubMed Link: 29472706
Variant Present in the following documents:
  • Main text
  • 41419_2018_Article_357.pdf
View BVdb publication page



A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neurons.

Cell Research
Li, Rui R; Yang, Yun-Gui YG; Gao, Yunzhou Y; Wang, Zhao-Qi ZQ; Tong, Wei-Min WM
Publication Date: 2012-05

Variant appearance in text: ATM: S1987p
PubMed Link: 22212482
Variant Present in the following documents:
  • Main text
  • cr20123a.pdf
View BVdb publication page



Essential role for DNA-PKcs in DNA double-strand break repair and apoptosis in ATM-deficient lymphocytes.

Molecular Cell
Callén, Elsa E; Jankovic, Mila M; Wong, Nancy N; Zha, Shan S; Chen, Hua-Tang HT; Difilippantonio, Simone S; Di Virgilio, Michela M; Heidkamp, Gordon G; Alt, Frederick W FW; Nussenzweig, André A; Nussenzweig, Michel M
Publication Date: 2009-05-15

Variant appearance in text: ATM: S1987p
PubMed Link: 19450527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activation of ATM depends on chromatin interactions occurring before induction of DNA damage.

Nature Cell Biology
Kim, Yong-Chul YC; Gerlitz, Gabi G; Furusawa, Takashi T; Catez, Frédéric F; Nussenzweig, Andre A; Oh, Kyu-Seon KS; Kraemer, Kenneth H KH; Shiloh, Yosef Y; Bustin, Michael M
Publication Date: 2009-01

Variant appearance in text: ATM: S1987p
PubMed Link: 19079244
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis.

The Journal Of Experimental Medicine
Difilippantonio, Simone S; Celeste, Arkady A; Kruhlak, Michael J MJ; Lee, Youngsoo Y; Difilippantonio, Michael J MJ; Feigenbaum, Lionel L; Jackson, Stephen P SP; McKinnon, Peter J PJ; Nussenzweig, André A
Publication Date: 2007-05-14

Variant appearance in text: ATM: S1987p
PubMed Link: 17485521
Variant Present in the following documents:
  • Main text
  • jem2041003.pdf
View BVdb publication page