ATM c.9080G>T ;(p.S3027I)

Variant ID: 11-108236144-G-T

NM_000051.3(ATM):c.9080G>T;(p.S3027I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ATM: S3027I
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



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: S3027I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Frontiers In Endocrinology
Madsen, Majbritt Busk MB; Kiss, Katalin K; Cilius Nielsen, Finn F; Bennedbæk, Finn Noe FN; Rossing, Maria M
Publication Date: 2020

Variant appearance in text: ATM: 9080G>T; S3027I
PubMed Link: 32265839
Variant Present in the following documents:
  • Main text
  • fendo-11-00146.pdf
  • Table_1.pdf
View BVdb publication page



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: 9080G>T; S3027I
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.

Nature Communications
Riaz, Nadeem N; Blecua, Pedro P; Lim, Raymond S RS; Shen, Ronglai R; Higginson, Daniel S DS; Weinhold, Nils N; Norton, Larry L; Weigelt, Britta B; Powell, Simon N SN; Reis-Filho, Jorge S JS
Publication Date: 2017-10-11

Variant appearance in text: ATM: S3027I
PubMed Link: 29021619
Variant Present in the following documents:
  • 41467_2017_921_MOESM6_ESM.xlsx, sheet 1
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: S3027I
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 2
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: ATM: 9080G>T; Ser3027Ile
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page