ATM c.64G>T ;(p.E22*)

Variant ID: 11-108098415-G-T

NM_000051.3(ATM):c.64G>T;(p.E22*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: ATM: E22*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Breast Cancer Research : Bcr
Renault, Anne-Laure AL; Dowty, James G JG; Steen, Jason A JA; Li, Shuai S; Winship, Ingrid M IM; Giles, Graham G GG; Hopper, John L JL; Southey, Melissa C MC; Nguyen-Dumont, TĂș T
Publication Date: 2022-04-01

Variant appearance in text: ATM: 64G>T; Glu22*
PubMed Link: 35365198
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1518.pdf
View BVdb publication page



Amyloid beta-protein: experiment and theory on the 21-30 fragment.

The Journal Of Physical Chemistry. B
Murray, Megan M MM; Krone, Mary Griffin MG; Bernstein, Summer L SL; Baumketner, Andrij A; Condron, Margaret M MM; Lazo, Noel D ND; Teplow, David B DB; Wyttenbach, Thomas T; Shea, Joan-Emma JE; Bowers, Michael T MT
Publication Date: 2009-04-30

Variant appearance in text: ATD: E22X
PubMed Link: 19341254
Variant Present in the following documents:
  • Main text
View BVdb publication page