ATM c.5250G>A ;(p.W1750*)

Variant ID: 11-108172447-G-A

NM_000051.3(ATM):c.5250G>A;(p.W1750*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: ATM: 5250G>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutational profile of primary breast diffuse large B-cell lymphoma.

Oncotarget
Franco, Fernando F; González-Rincón, Julia J; Lavernia, Javier J; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Piris, Miguel A MA; Pedrosa, Lucia L; Miramón, José J; Gómez-Codina, José J; Rodríguez-Abreu, Delvys D; Machado, Isidro I; Illueca, Carmen C; Alfaro, Jesús J; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2017-11-28

Variant appearance in text: ATM: W1750X
PubMed Link: 29262531
Variant Present in the following documents:
  • Main text
  • oncotarget-08-102888.pdf
  • oncotarget-08-102888-s001.xlsx, sheet 1
View BVdb publication page