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ATM c.1318_1319inv ;(p.S440D)
Variant ID: 11-108121510-TC-GA
NM_000051.3(
ATM
):c.1318_1319inv;(p.S440D)
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:
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: S440D
PubMed Link:
27939942
Variant Present in the following documents:
Main text
View BVdb publication page