ATM c.8666A>C ;(p.D2889A)

Variant ID: 11-108218087-A-C

NM_000051.3(ATM):c.8666A>C;(p.D2889A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers
Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M
Publication Date: 2021-11-01

Variant appearance in text: ATM: D2889A
PubMed Link: 34771661
Variant Present in the following documents:
  • Main text
  • cancers-13-05498.pdf
View BVdb publication page



The Cancer-Associated ATM R3008H Mutation Reveals the Link between ATM Activation and Its Exchange.

Cancer Research
Milanovic, Maja M; Houghton, Lisa M LM; Menolfi, Demis D; Lee, Ji-Hoon JH; Yamamoto, Kenta K; Li, Yang Y; Lee, Brian J BJ; Xu, Jun J; Estes, Verna M VM; Wang, Dong D; Mckinnon, Peter J PJ; Paull, Tanya T TT; Zha, Shan S
Publication Date: 2021-01-15

Variant appearance in text: ATM: D2889A
PubMed Link: 33239428
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM directs DNA damage responses and proteostasis via genetically separable pathways.

Science Signaling
Lee, Ji-Hoon JH; Mand, Michael R MR; Kao, Chung-Hsuan CH; Zhou, Yi Y; Ryu, Seung W SW; Richards, Alicia L AL; Coon, Joshua J JJ; Paull, Tanya T TT
Publication Date: 2018-01-09

Variant appearance in text: ATM: D2889A
PubMed Link: 29317520
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of ATM kinase activity leads to embryonic lethality in mice.

The Journal Of Cell Biology
Daniel, Jeremy A JA; Pellegrini, Manuela M; Lee, Baeck-Seung BS; Guo, Zhi Z; Filsuf, Darius D; Belkina, Natalya V NV; You, Zhongsheng Z; Paull, Tanya T TT; Sleckman, Barry P BP; Feigenbaum, Lionel L; Nussenzweig, André A
Publication Date: 2012-08-06

Variant appearance in text: ATM: D2889A
PubMed Link: 22869595
Variant Present in the following documents:
  • Main text
  • JCB_201204035.pdf
View BVdb publication page