Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L121*
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ATM

NM_000051.4:p.L121*

Associated Papers

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Marakhonov A et al.

Frontiers in Immunology, 2026

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S4

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy.

Gleeson EM et al.

American Journal of Clinical Oncology, 2018

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

Cognitive phenotype in ataxia-telangiectasia.

Hoche F et al.

Pediatric Neurology, 2014

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I et al.

Neurogenetics, 2011

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

Birrell GW et al.

Human Mutation, 2005

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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."