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ATM c.7735_7736delinsGC ;(p.R2579A)
Variant ID: 11-108202711-AG-GC
NM_000051.3(
ATM
):c.7735_7736delinsGC;(p.R2579A)
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:
Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species.
Redox Biology
Lee, Ji-Hoon JH; Paull, Tanya T TT
Publication Date: 2020-05
Variant appearance in text: ATM: R2579A
PubMed Link:
32244177
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
ATM directs DNA damage responses and proteostasis via genetically separable pathways.
Science Signaling
Lee, Ji-Hoon JH; Mand, Michael R MR; Kao, Chung-Hsuan CH; Zhou, Yi Y; Ryu, Seung W SW; Richards, Alicia L AL; Coon, Joshua J JJ; Paull, Tanya T TT
Publication Date: 2018-01-09
Variant appearance in text: ATM: R2579A
PubMed Link:
29317520
Variant Present in the following documents:
Main text
View BVdb publication page