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ATM c.432dup ;(p.L145Tfs*14)
Variant ID: 11-108106496-T-TA
NM_000051.3(
ATM
):c.432dup;(p.L145Tfs*14)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 432dup; Leu145Thrfs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
Cancers
Fountzilas, Elena E; Eliades, Alexia A; Koliou, Georgia-Angeliki GA; Achilleos, Achilleas A; Loizides, Charalambos C; Tsangaras, Kyriakos K; Pectasides, Dimitrios D; Sgouros, Joseph J; Papakostas, Pavlos P; Rallis, Grigorios G; Psyrri, Amanda A; Papadimitriou, Christos C; Oikonomopoulos, Georgios G; Ferentinos, Konstantinos K; Koumarianou, Anna A; Zarkavelis, George G; Dervenis, Christos C; Aravantinos, Gerasimos G; Bafaloukos, Dimitrios D; Kosmidis, Paris P; Papaxoinis, George G; Theochari, Maria M; Varthalitis, Ioannis I; Kentepozidis, Nikolaos N; Rigakos, Georgios G; Saridaki, Zacharenia Z; Nikolaidi, Adamantia A; Christopoulou, Athina A; Fostira, Florentia F; Samantas, Epaminontas E; Kypri, Elena E; Ioannides, Marios M; Koumbaris, George G; Fountzilas, George G; Patsalis, Philippos C PC
Publication Date: 2021-01-08
Variant appearance in text: ATM: 432dupA
PubMed Link:
33429865
Variant Present in the following documents:
cancers-13-00198-s001.pdf
View BVdb publication page
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15
Variant appearance in text: ATM: 432_433insA; Leu145fs
PubMed Link:
27304073
Variant Present in the following documents:
elife-14709-supp1.xlsx, sheet 1
View BVdb publication page