ATM c.1273G>T ;(p.A425S)

Variant ID: 11-108121465-G-T

NM_000051.3(ATM):c.1273G>T;(p.A425S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A novel 3D pillar/well array platform using patient-derived head and neck tumor to predict the individual radioresponse.

Translational Oncology
Lee, Dong Woo DW; Choi, Sung Yong SY; Kim, Soo Yoon SY; Kim, Hye Jin HJ; Shin, Da-Yong DY; Shim, Joonho J; Ku, Bosung B; Oh, Dongryul D; Chung, Man Ki MK
Publication Date: 2022-10

Variant appearance in text: ATM: A425S
PubMed Link: 35850059
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: ATM: 1273G>T
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
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: 1273G>T; A425S
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One
França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB
Publication Date: 2020

Variant appearance in text: ATM: 1273G>T; A425S; rs769214234
PubMed Link: 33095795
Variant Present in the following documents:
  • Main text
  • pone.0240795.pdf
View BVdb publication page