ATM c.8213T>A ;(p.L2738*)

Variant ID: 11-108206633-T-A

NM_000051.3(ATM):c.8213T>A;(p.L2738*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.

Oncotarget
Ma, Jennifer J; Setton, Jeremy J; Morris, Luc L; Albornoz, Pedro Blecua Carrillo PB; Barker, Christopher C; Lok, Benjamin H BH; Sherman, Eric E; Katabi, Nora N; Beal, Kathryn K; Ganly, Ian I; Powell, Simon N SN; Lee, Nancy N; Chan, Timothy A TA; Riaz, Nadeem N
Publication Date: 2017-02-07

Variant appearance in text: ATM: L2738*
PubMed Link: 28055970
Variant Present in the following documents:
  • Main text
  • oncotarget-08-10312.pdf
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: ATM: L2738*
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s11.xlsx, sheet 1
  • ncomms10086-s3.xlsx, sheet 1
  • ncomms10086-s5.xlsx, sheet 1
View BVdb publication page