Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G2867R
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ATM

NM_000051.4:p.G2867R

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.

Yates LA et al.

Structure (london, England : 1993), 2020

Rare germline variants in known melanoma susceptibility genes in familial melanoma.

Goldstein AM et al.

Human Molecular Genetics, 2017

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

George Priya Doss C et al.

Plos One, 2012

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

Functional consequences of sequence alterations in the ATM gene.

Lavin MF et al.

Dna Repair, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."