Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.R338W
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TOP3B

NM_001282112.2:p.R338W

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

TOP3A coupling with replication forks and repair of TOP3A cleavage complexes.

Saha LK et al.

Cell Cycle (georgetown, Tex.), 2024

The TDRD3-USP9X complex and MIB1 regulate TOP3B homeostasis and prevent deleterious TOP3B cleavage complexes.

Saha S et al.

Nature Communications, 2023

37980342 (PubMed )
Supplement: 41467_2023_43151_MOESM2_ESM.pdf

Replication-associated formation and repair of human topoisomerase IIIα cleavage complexes.

Saha LK et al.

Nature Communications, 2023

Structural and biochemical basis for DNA and RNA catalysis by human Topoisomerase 3β.

Yang X et al.

Nature Communications, 2022

DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks.

Saha S et al.

Cell Reports, 2020

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."