ATM c.1432T>G ;(p.S478A)

Variant ID: 11-108121624-T-G

NM_000051.3(ATM):c.1432T>G;(p.S478A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.

Molecular Cell
Rao, Feng F; Cha, Jiyoung J; Xu, Jing J; Xu, Risheng R; Vandiver, M Scott MS; Tyagi, Richa R; Tokhunts, Robert R; Koldobskiy, Michael A MA; Fu, Chenglai C; Barrow, Roxanne R; Wu, Mingxuan M; Fiedler, Dorothea D; Barrow, James C JC; Snyder, Solomon H SH
Publication Date: 2014-04-10

Variant appearance in text: ATM: S478A
PubMed Link: 24657168
Variant Present in the following documents:
  • Main text
View BVdb publication page