Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q374*
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ATM

NM_000051.4:p.Q374*

Associated Papers

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

Myoclonus in ataxia-telangiectasia.

Termsarasab P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015

ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

Skowronska A et al.

Haematologica, 2012

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M et al.

Human Mutation, 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."