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ATM c.2380_2381delinsGC ;(p.S794A)
Variant ID: 11-108129716-AG-GC
NM_000051.3(
ATM
):c.2380_2381delinsGC;(p.S794A)
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:
Phosphorylation of ATM by Cdk5 mediates DNA damage signalling and regulates neuronal death.
Nature Cell Biology
Tian, Bo B; Yang, Qian Q; Mao, Zixu Z
Publication Date: 2009-02
Variant appearance in text: ATM: S794A
PubMed Link:
19151707
Variant Present in the following documents:
Main text
NIHMS100613-supplement-supp_files.pdf
nihms100613.pdf
View BVdb publication page