ATM c.3454T>G ;(p.S1152A)

Variant ID: 11-108151773-T-G

NM_000051.3(ATM):c.3454T>G;(p.S1152A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetically Engineered Mouse Models for Hereditary Cancer Syndromes.

Cancer Science
Biswas, Kajal K; Mohammed, Altaf A; Sharan, Shyam K SK; Shoemaker, Robert H RH
Publication Date: 2023-01-30

Variant appearance in text: ATM: S1152A
PubMed Link: 36715493
Variant Present in the following documents:
  • Main text
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: 3454T>G; S1152A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mouse Models for Deciphering the Impact of Homologous Recombination on Tumorigenesis.

Cancers
Matos-Rodrigues, Gabriel G; Martini, Emmanuelle E; Lopez, Bernard S BS
Publication Date: 2021-04-25

Variant appearance in text: ATM: S1152A
PubMed Link: 33923105
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 and homologous recombination: implications from mouse embryonic development.

Cell & Bioscience
Liu, Yidan Y; Lu, Lin-Yu LY
Publication Date: 2020

Variant appearance in text: ATM: S1152A
PubMed Link: 32257107
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_412.pdf
View BVdb publication page



Impaired skin and mammary gland development and increased gamma-irradiation-induced tumorigenesis in mice carrying a mutation of S1152-ATM phosphorylation site in Brca1.

Cancer Research
Kim, Sang Soo SS; Cao, Liu L; Baek, Hye Jung HJ; Lim, Sung-Chul SC; Li, Cuiling C; Wang, Rui-Hong RH; Xu, Xiaoling X; Cho, Kwan Ho KH; Deng, Chu-Xia CX
Publication Date: 2009-12-15

Variant appearance in text: ATM: S1152A
PubMed Link: 19996295
Variant Present in the following documents:
  • Main text
View BVdb publication page