ATM c.3248A>G ;(p.H1083R)

Variant ID: 11-108143543-A-G

NM_000051.3(ATM):c.3248A>G;(p.H1083R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ATM: 3248A>G; H1083R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Scientific Reports
Mariani, L L LL; Rivaud-PĂ©choux, S S; Charles, P P; Ewenczyk, C C; Meneret, A A; Monga, B B BB; Fleury, M-C MC; Hainque, E E; Maisonobe, T T; Degos, B B; Echaniz-Laguna, A A; Renaud, M M; Wirth, T T; Grabli, D D; Brice, A A; Vidailhet, M M; Stoppa-Lyonnet, D D; Dubois-d'Enghien, C C; Le Ber, I I; Koenig, M M; Roze, E E; Tranchant, C C; Durr, A A; Gaymard, B B; Anheim, M M
Publication Date: 2017-11-10

Variant appearance in text: ATM: H1083R
PubMed Link: 29127364
Variant Present in the following documents:
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: 3248A>G; His1083Arg
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Human Mutation
Mitui, M M; Nahas, S A SA; Du, L T LT; Yang, Z Z; Lai, C H CH; Nakamura, K K; Arroyo, S S; Scott, S S; Purayidom, A A; Concannon, P P; Lavin, M M; Gatti, R A RA
Publication Date: 2009-01

Variant appearance in text: ATM: 3248A>G; H1083R
PubMed Link: 18634022
Variant Present in the following documents:
  • Main text
View BVdb publication page