Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2414fs
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ATM

NM_000051.4:p.Q2414fs

Associated Papers

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers.

Schayek H et al.

The Israel Medical Association Journal : Imaj, 2017

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

The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

Laitman Y et al.

Cancer Genetics, 2016

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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."