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ATM c.7024G>A ;(p.G2342S)
Variant ID: 11-108198420-G-A
NM_000051.3(
ATM
):c.7024G>A;(p.G2342S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 7024G>A; Gly2342Ser
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.
Acta Neuropathologica Communications
Georgescu, M-M MM; Islam, M Z MZ; Li, Y Y; Circu, M L ML; Traylor, J J; Notarianni, C M CM; Kline, C N CN; Burns, D K DK
Publication Date: 2020-07-17
Variant appearance in text: ATM: G2342S
PubMed Link:
32680567
Variant Present in the following documents:
Main text
40478_2020_Article_992.pdf
View BVdb publication page