ATM c.1420_1421delinsGC ;(p.S474A)

Variant ID: 11-108121612-AG-GC

NM_000051.3(ATM):c.1420_1421delinsGC;(p.S474A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular basis of Tousled-Like Kinase 2 activation.

Nature Communications
Mortuza, Gulnahar B GB; Hermida, Dario D; Pedersen, Anna-Kathrine AK; Segura-Bayona, Sandra S; López-Méndez, Blanca B; Redondo, Pilar P; Rüther, Patrick P; Pozdnyakova, Irina I; Garrote, Ana M AM; Muñoz, Inés G IG; Villamor-Payà, Marina M; Jauset, Cristina C; Olsen, Jesper V JV; Stracker, Travis H TH; Montoya, Guillermo G
Publication Date: 2018-06-28

Variant appearance in text: ATM: S474A
PubMed Link: 29955062
Variant Present in the following documents:
  • 41467_2018_Article_4941.pdf
View BVdb publication page



Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.

Molecular Cell
Zhou, Yi Y; Lee, Ji-Hoon JH; Jiang, Wenxia W; Crowe, Jennie L JL; Zha, Shan S; Paull, Tanya T TT
Publication Date: 2017-01-05

Variant appearance in text: ATM: S474A
PubMed Link: 27939942
Variant Present in the following documents:
  • Main text
View BVdb publication page



UV-dependent phosphorylation of COP9/signalosome in UV-induced apoptosis.

Oncology Reports
Dubois, Emilie Laure EL; Gerber, Scott S; Kisselev, Alexei A; Harel-Bellan, Annick A; Groisman, Regina R
Publication Date: 2016-05

Variant appearance in text: ATM: S474A
PubMed Link: 26986008
Variant Present in the following documents:
  • Main text
View BVdb publication page