ATM c.1358C>T ;(p.P453L)

Variant ID: 11-108121550-C-T

NM_000051.3(ATM):c.1358C>T;(p.P453L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 1358C>T; Pro453Leu; rs786204124
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
  • 41598_2022_Article_4791.pdf
View BVdb publication page



Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 1358C>T; Pro453Leu; rs786204124
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
  • 41598_2022_Article_4791.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: 1358C>T; Pro453Leu; rs786204124
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities.

Nucleic Acids Research
Kurzynska-Kokorniak, Anna A; Koralewska, Natalia N; Pokornowska, Maria M; Urbanowicz, Anna A; Tworak, Aleksander A; Mickiewicz, Agnieszka A; Figlerowicz, Marek M
Publication Date: 2015-05-19

Variant appearance in text: ATM: P453L
PubMed Link: 25883138
Variant Present in the following documents:
  • supp_gkv328_nar-03037-survey-d-2014-File005.pdf
View BVdb publication page