ATM c.217G>A ;(p.E73K)

Variant ID: 11-108099936-G-A

NM_000051.3(ATM):c.217G>A;(p.E73K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Interactions of Polymyxin B in Combination with Aztreonam, Minocycline, Meropenem, and Rifampin against Escherichia coli Producing NDM and OXA-48-Group Carbapenemases.

Antimicrobial Agents And Chemotherapy
Olsson, Anna A; Hong, Marcus M; Al-Farsi, Hissa H; Giske, Christian G CG; Lagerbäck, Pernilla P; Tängdén, Thomas T
Publication Date: 2021-11-17

Variant appearance in text: ATM: E73K
PubMed Link: 34516251
Variant Present in the following documents:
  • Main text
  • aac.01065-21.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 217G>A; Glu73Lys
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Frontiers In Oncology
Nishimura, Toshihide T; Végvári, Ákos Á; Nakamura, Haruhiko H; Kato, Harubumi H; Saji, Hisashi H
Publication Date: 2020

Variant appearance in text: ATM: E73K
PubMed Link: 32983988
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 6
View BVdb publication page



Screening of germline mutations in young Rwandan patients with breast cancers.

Molecular Genetics & Genomic Medicine
Uyisenga, Jeanne P JP; Segers, Karin K; Lumaka, Aimé Z AZ; Mugenzi, Pacifique P; Fasquelle, Corinne C; Boujemila, Bouchra B; Josse, Claire C; Mutesa, Leon L; Bours, Vincent V
Publication Date: 2020-11

Variant appearance in text: ATM: 217G>A; Glu73Lys
PubMed Link: 32959997
Variant Present in the following documents:
  • MGG3-8-e1500.pdf
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: ATM: 217G>A; E73K
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page