Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.C157Y
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RAC1

NM_006908.5:p.C157Y

Associated Papers

Regulatory Functions of TDP-43 and FMRP in Non-Neuronal Diseases: Are Co-Targeted mRNAs the Keys?

Ahsan A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

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

Rho GTPase signaling in cancer progression and dissemination.

Crosas-Molist E et al.

Physiological Reviews, 2022

Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.

Fell CW et al.

Trends in Molecular Medicine, 2021

Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

Zamboni V et al.

International Journal of Molecular Sciences, 2018

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Reijnders MRF et al.

American Journal of Human Genetics, 2017

Transforming mutations of RAC guanosine triphosphatases in human cancers.

Kawazu M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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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."