ATM c.4534G>A ;(p.A1512T)

Variant ID: 11-108163443-G-A

NM_000051.3(ATM):c.4534G>A;(p.A1512T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 4534G>A; A1512T
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.

The Embo Journal
Hoffmann, Karen K; Berger, Hilmar H; Kulbe, Hagen H; Thillainadarasan, Sukanija S; Mollenkopf, Hans-Joachim HJ; Zemojtel, Tomasz T; Taube, Eliane E; Darb-Esfahani, Silvia S; Mangler, Mandy M; Sehouli, Jalid J; Chekerov, Radoslav R; Braicu, Elena I EI; Meyer, Thomas F TF; Kessler, Mirjana M
Publication Date: 2020-03-16

Variant appearance in text: ATM: 4534G>A
PubMed Link: 32009247
Variant Present in the following documents:
  • Main text
  • EMBJ-39-e104013.pdf
  • EMBJ-39-e104013-s006.xlsx, sheet 1
View BVdb publication page