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ATM c.1105T>G ;(p.S369A)
Variant ID: 11-108119699-T-G
NM_000051.3(
ATM
):c.1105T>G;(p.S369A)
This variant was identified in 3 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: S369A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Novel Phosphorylations of IKKγ/NEMO.
Mbio
Lee, Sun Hwa SH; Toth, Zsolt Z; Wong, Lai-Yee LY; Brulois, Kevin K; Nguyen, Jim J; Lee, June-Yong JY; Zandi, Ebrahim E; Jung, Jae U JU
Publication Date: 2012-11-06
Variant appearance in text: ATM: S369A
PubMed Link:
23131831
Variant Present in the following documents:
Main text
mBio.00411-12.pdf
View BVdb publication page
ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.
The Journal Of Biological Chemistry
Taira, Naoe N; Yamamoto, Hiroyuki H; Yamaguchi, Tomoko T; Miki, Yoshio Y; Yoshida, Kiyotsugu K
Publication Date: 2010-02-12
Variant appearance in text: ATM: S369A
PubMed Link:
19965871
Variant Present in the following documents:
Main text
View BVdb publication page