Varaico: Literature-Extracted Genetic Variants

Gene:RAC3
Variant:p.P29L
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RAC3

NM_005052.3:p.P29L

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

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

Scala M et al.

Brain : a Journal of Neurology, 2022

Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.

Scala M et al.

Cells, 2021

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.

Hiraide T et al.

Journal of Human Genetics, 2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."