Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.V409I
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TUBA1A

NM_006009.4:p.V409I

Associated Papers

Role of α-tubulin helix 11' in heterodimer conformation and microtubule dynamics.

Hoff KJ et al.

Biorxiv : the Preprint Server for Biology, 2026

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

MAPping tubulin mutations.

Cushion TD et al.

Frontiers in Cell and Developmental Biology, 2023

TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.

Hoff KJ et al.

Elife, 2022

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Schröter J et al.

European Journal of Human Genetics : Ejhg, 2022

35017693 (PubMed )
Supplement: 41431_2021_1027_MOESM5_ESM.xlsx › Tabelle1

The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.

Hoff KJ et al.

Frontiers in Cellular Neuroscience, 2022

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M et al.

Orphanet Journal of Rare Diseases, 2019

30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › TUBA1A_unique-variants

The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Aiken J et al.

Journal of Developmental Biology, 2017

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2014

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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."