Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.A364D
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TUBB4A

NM_006087.4:p.A364D

Associated Papers

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Ben Jdila M et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Fellner A et al.

Scientific Reports, 2022

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ057

Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Lazar IM et al.

Scientific Reports, 2019

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y et al.

Human Genome Variation, 2017

28791129 (PubMed )
Supplement: hgv201735-s2.pdf

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

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Pyle A et al.

Brain : a Journal of Neurology, 2015

A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.

Law BM et al.

The Journal of Biological Chemistry, 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."