Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K750_S751Splc
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ATM

NM_000051.4:p.K750_S751Splc

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS2.docx

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Lee E et al.

Genes, 2025

40565563 (PubMed )
Supplement: genes-16-00671-s001.zip › genes-3570662-supplementary.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
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