ATM c.64_66delinsTGT ;(p.E22C)

Variant ID: 11-108098415-GAA-TGT

NM_000051.3(ATM):c.64_66delinsTGT;(p.E22C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: ATM: e22c
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Treacle controls the nucleolar response to rDNA breaks via TOPBP1 recruitment and ATR activation.

Nature Communications
Mooser, Clémence C; Symeonidou, Ioanna-Eleni IE; Leimbacher, Pia-Amata PA; Ribeiro, Alison A; Shorrocks, Ann-Marie K AK; Jungmichel, Stephanie S; Larsen, Sara C SC; Knechtle, Katja K; Jasrotia, Arti A; Zurbriggen, Diana D; Jeanrenaud, Alain A; Leikauf, Colin C; Fink, Daniel D; Nielsen, Michael L ML; Blackford, Andrew N AN; Stucki, Manuel M
Publication Date: 2020-01-08

Variant appearance in text: ATM: E22C
PubMed Link: 31913317
Variant Present in the following documents:
  • Main text
View BVdb publication page