Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S601I
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ATM

NM_000051.4:p.S601I

Associated Papers

The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.

Pinheiro RF et al.

Dna Repair, 2025

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

Bandeira G et al.

Breast Cancer (tokyo, Japan), 2021

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Discovering moderate-risk breast cancer susceptibility genes.

Hollestelle A et al.

Current Opinion in Genetics & Development, 2010

Contributions of ATM mutations to familial breast and ovarian cancer.

Thorstenson YR et al.

Cancer Research, 2003

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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."