Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.*3057S
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ATM

NM_000051.4:p.*3057S

Associated Papers

5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.

Sokolenko AP et al.

Familial Cancer, 2025

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.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

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

Hacia JG et al.

Genome Research, 1998

Predominance of null mutations in ataxia-telangiectasia.

Gilad S et al.

Human Molecular Genetics, 1996

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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."