Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.Y272H
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SPTBN2

NM_006946.4:p.Y272H

Associated Papers

Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.

Denha SA et al.

The Journal of Biological Chemistry, 2025

Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.

Denha SA et al.

Biorxiv : the Preprint Server for Biology, 2024

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.

Atang AE et al.

Cells, 2023

Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.

Atang AE et al.

Biorxiv : the Preprint Server for Biology, 2023

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Sancho P et al.

International Journal of Molecular Sciences, 2021

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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."