Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.Q15K
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TUBB

NM_178014.4:p.Q15K

Associated Papers

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

Mollica A et al.

Nature Communications, 2025

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.

Janakiraman V et al.

Journal of Molecular Modeling, 2023

Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.

Chun Fang G et al.

Molecular Genetics & Genomic Medicine, 2022

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.

Watanabe K et al.

Journal of Human Genetics, 2021

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Sferra A et al.

International Journal of Molecular Sciences, 2020

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML et al.

Clinical Genetics, 2018

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M et al.

American Journal of Human Genetics, 2015

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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."