Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.R472Q
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TOP3B

NM_001282112.2:p.R472Q

Associated Papers

An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.

Warrick JE et al.

Nucleic Acids Research, 2025

An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.

Warrick JE et al.

Biorxiv : the Preprint Server for Biology, 2025

Molecular Evolution of DNA Topoisomerase III Beta (TOP3B) in Metazoa.

Moreira F et al.

Journal of Molecular Evolution, 2021

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Type IA topoisomerases can be "magicians" for both DNA and RNA in all domains of life.

Ahmad M et al.

Rna Biology, 2017

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

Kaufman CS et al.

Cytogenetic and Genome Research, 2016

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B et al.

Nature Genetics, 2012

Unraveling the Role of Topoisomerase 3β (TOP3B) in mRNA Translation and Human Disease.

Warrick JE et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."