Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.R68S
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RAC1

NM_006908.5:p.R68S

Associated Papers

Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2025

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.

Seyama R et al.

Scientific Reports, 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

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters
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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."