ATM c.3375G>T ;(p.L1125F)

Variant ID: 11-108150308-G-T

NM_000051.3(ATM):c.3375G>T;(p.L1125F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ATM: L1125F
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



LOXL2 Expression Status Is Correlated With Molecular Characterizations of Cervical Carcinoma and Associated With Poor Cancer Survival via Epithelial-Mesenchymal Transition (EMT) Phenotype.

Frontiers In Oncology
Cao, Canhui C; Lin, Shitong S; Zhi, Wenhua W; Lazare, Cordelle C; Meng, Yifan Y; Wu, Ping P; Gao, Peipei P; Wei, Juncheng J; Wu, Peng P
Publication Date: 2020

Variant appearance in text: ATM: L1125F
PubMed Link: 32211324
Variant Present in the following documents:
  • Table_1.xls, sheet 6
View BVdb publication page



Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal
Leeksma, O C OC; de Miranda, N F NF; Veelken, H H
Publication Date: 2017-02-17

Variant appearance in text: ATM: L1125F
PubMed Link: 28211887
Variant Present in the following documents:
  • Main text
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: L1125F
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 2
View BVdb publication page



DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

The Journal Of Experimental Medicine
de Miranda, Noel F C C NF; Peng, Roujun R; Georgiou, Konstantinos K; Wu, Chenglin C; Falk Sörqvist, Elin E; Berglund, Mattias M; Chen, Longyun L; Gao, Zhibo Z; Lagerstedt, Kristina K; Lisboa, Susana S; Roos, Fredrik F; van Wezel, Tom T; Teixeira, Manuel R MR; Rosenquist, Richard R; Sundström, Christer C; Enblad, Gunilla G; Nilsson, Mats M; Zeng, Yixin Y; Kipling, David D; Pan-Hammarström, Qiang Q
Publication Date: 2013-08-26

Variant appearance in text: ATM: L1125F
PubMed Link: 23960188
Variant Present in the following documents:
  • supp_jem.20122842_JEM_20122842_sm.pdf
View BVdb publication page