Varaico: Literature-Extracted Genetic Variants

Gene:RAC3
Variant:p.P34R
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RAC3

NM_005052.3:p.P34R

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

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Scala M et al.

Brain : a Journal of Neurology, 2022

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

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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."