Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2717R
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ATM

NM_000051.4:p.K2717R

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

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

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

A novel approach to describe a U1 snRNA binding site.

Freund M et al.

Nucleic Acids Research, 2003

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Concannon P et al.

Human Mutation, 1997

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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."