ATM c.903dup ;(p.A302Cfs*3)

Variant ID: 11-108117691-G-GT

NM_000051.3(ATM):c.903dup;(p.A302Cfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical And Experimental Immunology
Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A
Publication Date: 2020-10

Variant appearance in text: ATM: 903_904insT; A302CfsX3
PubMed Link: 32691468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: N/A
PubMed Link: 27304073
Variant Present in the following documents:
View BVdb publication page