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ATM c.5545_5547delinsTAA ;(p.I1849*)
Variant ID: 11-108175450-ATT-TAA
NM_000051.3(
ATM
):c.5545_5547delinsTAA;(p.I1849*)
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: I1849X
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.
Scientific Reports
López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E
Publication Date: 2020-03-24
Variant appearance in text: ATM: I1849X
PubMed Link:
32210335
Variant Present in the following documents:
41598_2020_62279_MOESM2_ESM.xlsx, sheet 34
View BVdb publication page