Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.G140A
Back to variants list

TUBB2B

NM_178012.5:p.G140A

Associated Papers

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Mancini C et al.

Genes, 2025

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.

Whitman MC

Annual Review of Vision Science, 2021

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

Fourel G et al.

Febs Letters, 2020

Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

Romaniello R et al.

Brain & Development, 2015

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Romaniello R et al.

Developmental Medicine and Child Neurology, 2014

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW et al.

Human Molecular Genetics, 2013

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R et al.

Developmental Medicine and Child Neurology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."