Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.T17N
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RAC1

NM_006908.5:p.T17N

Associated Papers

Rac1 selectively binds a specific lamellipodin isoform via a noncanonical helical interface.

Gao T et al.

The Journal of Biological Chemistry, 2026

Thymic egress and peripheral T cell homeostasis regulated by Rho GTPase-activating protein 30.

Zhang H et al.

Cell Death and Differentiation, 2025

New insights into the classification of the RAC1 P29S hotspot mutation in melanoma as an oncogene.

Mirzaiebadizi A et al.

Cancer Gene Therapy, 2025

Mouse scalp development requires Rac1 and SRF for the maintenance of mechanoresponsive mesenchyme.

Rathnakar BH et al.

Development (cambridge, England), 2025

Tumorigenesis Driven by BRAFV600E Requires Secondary Mutations That Overcome Its Feedback Inhibition of RAC1 and Migration.

Gadal S et al.

Cancer Research, 2025

Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2025

The mevalonate pathway contributes to breast primary tumorigenesis and lung metastasis.

Conde J et al.

Molecular Oncology, 2025

FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex.

Falace A et al.

Neurobiology of Disease, 2024

Tumorigenesis driven by the BRAFV600E oncoprotein requires secondary mutations that overcome its feedback inhibition of migration and invasion.

Gadal S et al.

Biorxiv : the Preprint Server for Biology, 2024

Unique vulnerability of RAC1-mutant melanoma to combined inhibition of CDK9 and immune checkpoints.

Cannon AC et al.

Oncogene, 2024

GTP Signaling Links Metabolism, DNA Repair, and Responses to Genotoxic Stress.

Zhou W et al.

Cancer Discovery, 2024

Twist family BHLH transcription factor 1 is required for the maintenance of leukemia stem cell in MLL-AF9+ acute myeloid leukemia.

Wang N et al.

Haematologica, 2024

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M et al.

European Journal of Human Genetics : Ejhg, 2023

GTP signaling links metabolism, DNA repair, and responses to genotoxic stress.

Zhou W et al.

Biorxiv : the Preprint Server for Biology, 2023

Cell surface protein aggregation triggers endocytosis to maintain plasma membrane proteostasis.

Paul D et al.

Nature Communications, 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

JADE2 Is Essential for Hippocampal Synaptic Plasticity and Cognitive Functions in Mice.

Fan M et al.

Biological Psychiatry, 2022

TRAF4/6 Is Needed for CD44 Cleavage and Migration via RAC1 Activation.

Kolliopoulos C et al.

Cancers, 2021

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

Fell CW et al.

Trends in Molecular Medicine, 2021

mTORC2/Rac1 Pathway Predisposes Cancer Aggressiveness in IDH1-Mutated Glioma.

Liu Y et al.

Cancers, 2020

32224866 (PubMed )
Supplement: cancers-12-00787-s001.zip › cancers-733430-revised-suppl-3.18 › cancers-733430-suppl-revised-3.18.docx

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Barbosa S et al.

American Journal of Human Genetics, 2020

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Reijnders MRF et al.

American Journal of Human Genetics, 2017

SARS coronavirus papain-like protease up-regulates the collagen expression through non-Samd TGF-β1 signaling.

Wang CY et al.

Virus Research, 2017

RNase L Suppresses Androgen Receptor Signaling, Cell Migration and Matrix Metalloproteinase Activity in Prostate Cancer Cells.

Dayal S et al.

International Journal of Molecular Sciences, 2017

28257035 (PubMed )
Supplement: ijms-18-00529-s001.pdf

piggyBac insertional mutagenesis screen identifies a role for nuclear RHOA in human ES cell differentiation.

Gayle S et al.

Stem Cell Reports, 2015

Dynamic microtubules catalyze formation of navigator-TRIO complexes to regulate neurite extension.

van Haren J et al.

Current Biology : Cb, 2014

RAC1P29S is a spontaneously activating cancer-associated GTPase.

Davis MJ et al.

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

A landscape of driver mutations in melanoma.

Hodis E et al.

Cell, 2012

The Type VI secretion system of Burkholderia cenocepacia affects multiple Rho family GTPases disrupting the actin cytoskeleton and the assembly of NADPH oxidase complex in macrophages.

Rosales-Reyes R et al.

Cellular Microbiology, 2012

Differential roles of Smad2 and Smad3 in the regulation of TGF-β1-mediated growth inhibition and cell migration in pancreatic ductal adenocarcinoma cells: control by Rac1.

Ungefroren H et al.

Molecular Cancer, 2011

Rac1 protein rescues neurite retraction caused by G2019S leucine-rich repeat kinase 2 (LRRK2).

Chan D et al.

The Journal of Biological Chemistry, 2011

Tyrosine phosphorylation of Rac1: a role in regulation of cell spreading.

Chang F et al.

Plos One, 2011

Rac1 expression by fibroblasts is required for tissue repair in vivo.

Liu S et al.

The American Journal of Pathology, 2009

Clathrin-independent endocytosis used by the IL-2 receptor is regulated by Rac1, Pak1 and Pak2.

Grassart A et al.

Embo Reports, 2008

RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors.

Thompson AP et al.

The Journal of Biological Chemistry, 0

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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."