Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1776*
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ATM

NM_000051.4:p.E1776*

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.

Hansen EB et al.

Scientific Reports, 2023

37932350 (PubMed )
Supplement: 41598_2023_46323_MOESM1_ESM.pdf

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

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K et al.

Human Mutation, 2000

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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."