ATM c.8189A>C ;(p.Q2730P)

Variant ID: 11-108206609-A-C

NM_000051.3(ATM):c.8189A>C;(p.Q2730P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 8189A>C; Gln2730Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers
Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M
Publication Date: 2021-11-01

Variant appearance in text: ATM: Q2730P
PubMed Link: 34771661
Variant Present in the following documents:
  • Main text
  • cancers-13-05498.pdf
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: ATM: Q2730P
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 13
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: Q2730P
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: 8189A>C; Q2730P
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ATM: Q2730P; rs762154857
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Loss of ATM kinase activity leads to embryonic lethality in mice.

The Journal Of Cell Biology
Daniel, Jeremy A JA; Pellegrini, Manuela M; Lee, Baeck-Seung BS; Guo, Zhi Z; Filsuf, Darius D; Belkina, Natalya V NV; You, Zhongsheng Z; Paull, Tanya T TT; Sleckman, Barry P BP; Feigenbaum, Lionel L; Nussenzweig, André A
Publication Date: 2012-08-06

Variant appearance in text: ATM: 8189A>C; Q2730P
PubMed Link: 22869595
Variant Present in the following documents:
  • Main text
  • JCB_201204035.pdf
View BVdb publication page



Molecular pathology of ataxia telangiectasia.

Journal Of Clinical Pathology
Taylor, A M R AM; Byrd, P J PJ
Publication Date: 2005-10

Variant appearance in text: ATM: Q2730P
PubMed Link: 16189143
Variant Present in the following documents:
  • Main text
View BVdb publication page