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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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