Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.H493N
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TDP1

NM_018319.4:p.H493N

Associated Papers

Dysregulated human Tyrosyl-DNA phosphodiesterase I acts as cellular toxin.

Cuya SM et al.

Oncotarget, 2016

Analysis of the active-site mechanism of tyrosyl-DNA phosphodiesterase I: a member of the phospholipase D superfamily.

Gajewski S et al.

Journal of Molecular Biology, 2012

In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation.

Hawkins AJ et al.

Dna Repair, 2009

SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity.

Interthal H et al.

The Embo Journal, 2005

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Takashima H et al.

Nature Genetics, 2002

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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."