ATM c.1501C>A ;(p.Q501K)

Variant ID: 11-108121693-C-A

NM_000051.3(ATM):c.1501C>A;(p.Q501K)

This variant was identified in 4 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: Q501K
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: Q501K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: 1501C>A; Q501K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.

Cell Reports
Farshidfar, Farshad F; Zheng, Siyuan S; Gingras, Marie-Claude MC; Newton, Yulia Y; Shih, Juliann J; Robertson, A Gordon AG; Hinoue, Toshinori T; Hoadley, Katherine A KA; Gibb, Ewan A EA; Roszik, Jason J; Covington, Kyle R KR; Wu, Chia-Chin CC; Shinbrot, Eve E; Stransky, Nicolas N; Hegde, Apurva A; Yang, Ju Dong JD; Reznik, Ed E; Sadeghi, Sara S; Pedamallu, Chandra Sekhar CS; Ojesina, Akinyemi I AI; Hess, Julian M JM; Auman, J Todd JT; Rhie, Suhn K SK; Bowlby, Reanne R; Borad, Mitesh J MJ; , ; Zhu, Andrew X AX; Stuart, Josh M JM; Sander, Chris C; Akbani, Rehan R; Cherniack, Andrew D AD; Deshpande, Vikram V; Mounajjed, Taofic T; Foo, Wai Chin WC; Torbenson, Michael S MS; Kleiner, David E DE; Laird, Peter W PW; Wheeler, David A DA; McRee, Autumn J AJ; Bathe, Oliver F OF; Andersen, Jesper B JB; Bardeesy, Nabeel N; Roberts, Lewis R LR; Kwong, Lawrence N LN
Publication Date: 2017-03-14

Variant appearance in text: ATM: Q501K
PubMed Link: 28297679
Variant Present in the following documents:
  • NIHMS866722-supplement-2.xlsx, sheet 2
View BVdb publication page