Varaico: Literature-Extracted Genetic Variants

Gene:RAC3
Variant:p.Y64C
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RAC3

NM_005052.3:p.Y64C

Associated Papers

A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.

Sugawara R et al.

The Journal of Biological Chemistry, 2025

The p.R66W Variant in RAC3 Causes Severe Fetopathy Through Variant-Specific Mechanisms.

Sugawara R et al.

Cells, 2024

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M et al.

European Journal of Human Genetics : Ejhg, 2023

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Banka S et al.

Brain : a Journal of Neurology, 2022

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Scala M et al.

Brain : a Journal of Neurology, 2022

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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."