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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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