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ATM c.1163A>G ;(p.K388R)
Variant ID: 11-108119757-A-G
NM_000051.3(
ATM
):c.1163A>G;(p.K388R)
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: 1163A>G; Lys388Arg
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Peroxisomal Membrane Contact Sites in Mammalian Cells.
Frontiers In Cell And Developmental Biology
Chen, Chao C; Li, Jing J; Qin, Xuhui X; Wang, Wei W
Publication Date: 2020
Variant appearance in text: ATM: K388R
PubMed Link:
32714927
Variant Present in the following documents:
fcell-08-00512.pdf
View BVdb publication page
Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
Jama Oncology
Stuttgen, Kelsey K; Croessmann, Sarah S; Fetting, John J; Stearns, Vered V; Nunes, Raquel R; Connolly, Roisin M RM; Park, Ben Ho BH
Publication Date: 2019-10-01
Variant appearance in text: ATM: 1163A>G; Lys388Arg
PubMed Link:
31465090
Variant Present in the following documents:
Main text
View BVdb publication page