ATM c.797G>A ;(p.W266*)

Variant ID: 11-108115649-G-A

NM_000051.3(ATM):c.797G>A;(p.W266*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Molecular Oncology
Mancikova, Veronika V; Pesova, Michaela M; Pavlova, Sarka S; Helma, Robert R; Zavacka, Kristyna K; Hejret, Vaclav V; Taus, Petr P; Hynst, Jakub J; Plevova, Karla K; Malcikova, Jitka J; Pospisilova, Sarka S
Publication Date: 2022-11-05

Variant appearance in text: ATM: 797G>A
PubMed Link: 36334078
Variant Present in the following documents:
  • MOL2-17-82-s003.pdf
View BVdb publication page



Diversity of ATM gene variants: a population-based genome data analysis for precision medicine.

Human Genomics
Fukunaga, Hisanori H; Taki, Yasuyuki Y; Prise, Kevin M KM
Publication Date: 2019-08-23

Variant appearance in text: ATM: Trp266*
PubMed Link: 31443742
Variant Present in the following documents:
  • Main text
  • 40246_2019_Article_234.pdf
View BVdb publication page



Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology
Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M
Publication Date: 2017-07

Variant appearance in text: ATM: 797G>A
PubMed Link: 28497333
Variant Present in the following documents:
  • 11060_2017_Article_2459.pdf
View BVdb publication page