Varaico: Literature-Extracted Genetic Variants

Gene:RAC3
Variant:p.Q61L
Back to variants list

RAC3

NM_005052.3:p.Q61L

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis.

Sugawara R et al.

Cells, 2025

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

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

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

Sugawara R et al.

Cells, 2024

Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.

Nishikawa M et al.

Journal of Medical Genetics, 2023

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

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Costain G et al.

Jama Network Open, 2020

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

Distinct Interaction Sites of Rac GTPase with WAVE Regulatory Complex Have Non-redundant Functions in Vivo.

Schaks M et al.

Current Biology : Cb, 2018

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."