ATM c.60T>C ;(p.A20=)

Variant ID: 11-108098411-T-C

NM_000051.3(ATM):c.60T>C;(p.A20=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The peroxisome counteracts oxidative stresses by suppressing catalase import via Pex14 phosphorylation.

Elife
Okumoto, Kanji K; El Shermely, Mahmoud M; Natsui, Masanao M; Kosako, Hidetaka H; Natsuyama, Ryuichi R; Marutani, Toshihiro T; Fujiki, Yukio Y
Publication Date: 2020-08-24

Variant appearance in text: ATM: A20A
PubMed Link: 32831175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extended in vitro culture of primary human mesenchymal stem cells downregulates Brca1-related genes and impairs DNA double-strand break recognition.

Febs Open Bio
Bao, Xuanwen X; Wang, Jing J; Zhou, Guangming G; Aszodi, Attila A; Schönitzer, Veronika V; Scherthan, Harry H; Atkinson, Michael J MJ; Rosemann, Michael M
Publication Date: 2020-07

Variant appearance in text: ATM: A20A
PubMed Link: 32333827
Variant Present in the following documents:
  • Main text
View BVdb publication page