Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.C666R
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TOP3B

NM_001282112.2:p.C666R

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

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

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

Ahmad M et al.

Rna Biology, 2017

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."