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ATM c.1420_1422delinsCAA ;(p.S474Q)
Variant ID: 11-108121612-AGC-CAA
NM_000051.3(
ATM
):c.1420_1422delinsCAA;(p.S474Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: S474Q
PubMed Link:
26986008
Variant Present in the following documents:
Main text
View BVdb publication page