ATM c.2399C>T ;(p.S800F)

Variant ID: 11-108129735-C-T

NM_000051.3(ATM):c.2399C>T;(p.S800F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ATM: S800F
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 5
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: ATM: 2399C>T; S800F
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 2399C>T; Ser800Phe
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: ATM: S800F
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 11
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: ATM: S800F
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
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: S800F
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: 2399C>T; S800F
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: ATM: S800F
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 19
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 56
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 88
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 32
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 13
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 42
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 22
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 78
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 30
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 29
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 44
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 60
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 27
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 10
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 37
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 36
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 70
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 8
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 14
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 48
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 25
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 46
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 77
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 90
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 26
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 91
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 72
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 54
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 23
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 15
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 43
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 6
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 69
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 79
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 5
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 62
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 7
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 20
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 92
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 71
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 3
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 31
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 49
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 12
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 58
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: S800F
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 2
View BVdb publication page