ATM c.3878A>G ;(p.N1293S)

Variant ID: 11-108155085-A-G

NM_000051.3(ATM):c.3878A>G;(p.N1293S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ATM: N1293S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports
Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C
Publication Date: 2021-05-24

Variant appearance in text: ATM: 3878A>G; N1293S
PubMed Link: 34031447
Variant Present in the following documents:
  • 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: ATM: N1293S
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
View BVdb publication page



Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports
D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F
Publication Date: 2019-11-21

Variant appearance in text: ATM: N1293S
PubMed Link: 31754145
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_53660.pdf
  • 41598_2019_53660_MOESM1_ESM.pdf
View BVdb publication page



Human GRIN2B variants in neurodevelopmental disorders.

Journal Of Pharmacological Sciences
Hu, Chun C; Chen, Wenjuan W; Myers, Scott J SJ; Yuan, Hongjie H; Traynelis, Stephen F SF
Publication Date: 2016-10

Variant appearance in text: ATD: 3878A>G
PubMed Link: 27818011
Variant Present in the following documents:
  • Main text
View BVdb publication page