ATM c.378T>G ;(p.D126E)

Variant ID: 11-108106443-T-G

NM_000051.3(ATM):c.378T>G;(p.D126E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: ATM: D126E
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Proteomic Resistance Biomarkers for PI3K Inhibitor in Triple Negative Breast Cancer Patient-Derived Xenograft Models.

Cancers
Guo, Zhanfang Z; Primeau, Tina T; Luo, Jingqin J; Zhang, Cynthia C; Sun, Hua H; Hoog, Jeremy J; Gao, Feng F; Huang, Shixia S; Edwards, Dean P DP; Davies, Sherri R SR; Aft, Rebecca R; Ding, Li L; Ellis, Matthew J MJ; Li, Shunqiang S; Ma, Cynthia X CX
Publication Date: 2020-12-21

Variant appearance in text: ATM: D126E
PubMed Link: 33371187
Variant Present in the following documents:
  • Main text
  • cancers-12-03857.pdf
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: ATM: D126E
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: ATM: D126E
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
View BVdb publication page



Role of DNA damage response pathways in preventing carcinogenesis caused by intrinsic replication stress.

Oncogene
Wallace, M D MD; Southard, T L TL; Schimenti, K J KJ; Schimenti, J C JC
Publication Date: 2014-07-10

Variant appearance in text: ATM: D126E
PubMed Link: 23975433
Variant Present in the following documents:
  • Main text
  • nihms-550215.pdf
View BVdb publication page



Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012

Variant appearance in text: ATM: D126E
PubMed Link: 22529920
Variant Present in the following documents:
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: ATM: D126E
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG
Publication Date: 2003-04-29

Variant appearance in text: ATM: D126E
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page