Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.Y336F
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TOP3B

NM_001282112.2:p.Y336F

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

Structural insights into human topoisomerase 3β DNA and RNA catalysis and nucleic acid gate dynamics.

Yang X et al.

Nature Communications, 2025

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

Yang X et al.

Nature Communications, 2022

TDRD3 promotes DHX9 chromatin recruitment and R-loop resolution.

Yuan W et al.

Nucleic Acids Research, 2021

Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation.

Xu D et al.

Nature Neuroscience, 2013

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.

Stoll G et al.

Nature Neuroscience, 2013

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."