Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L3010*
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ATM

NM_000051.4:p.L3010*

Associated Papers

Olaparib for patients with tumors harboring alterations in homologous recombination repair genes: Results from the drug rediscovery protocol.

Spiekman IAC et al.

International Journal of Cancer, 2026

41099623 (PubMed )
Supplement: IJC-158-1617-s003.xlsx › Cohort_A

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Brand F et al.

Acta Neuropathologica, 2026

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

Gorcenco S et al.

Journal of Neurology, 2024

37787810 (PubMed )
Supplement: 415_2023_11990_MOESM1_ESM.docx

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
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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."