Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.A248V
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TUBB

NM_178014.4:p.A248V

Associated Papers

Molecular simulations of paclitaxel binding to mutant β-tubulin: insights into chemotherapy resistance.

Vottero P et al.

Journal of Computer-aided Molecular Design, 2025

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Defining the phenotypical spectrum associated with variants in TUBB2A.

Brock S et al.

Journal of Medical Genetics, 2021

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

Human mutations that confer paclitaxel resistance.

Yin S et al.

Molecular Cancer Therapeutics, 2010

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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."