Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.S273C
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TARDBP

NM_007375.4:p.S273C

Associated Papers

Structural details of helix-mediated multimerization of the conserved region of TDP-43 C-terminal domain.

Rizuan A et al.

Nature Communications, 2025

Structural details of helix-mediated TDP-43 C-terminal domain multimerization.

Rizuan A et al.

Biorxiv : the Preprint Server for Biology, 2024

TDP-43 α-helical structure tunes liquid-liquid phase separation and function.

Conicella AE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Mechanistic View of hnRNPA2 Low-Complexity Domain Structure, Interactions, and Phase Separation Altered by Mutation and Arginine Methylation.

Ryan VH et al.

Molecular Cell, 2018

ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain.

Conicella AE et al.

Structure (london, England : 1993), 2016

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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."