Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.Q61L
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RAC1

NM_006908.5:p.Q61L

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

The emerging role of disulfidptosis in Alzheimer's disease.

Zhou Q et al.

European Journal of Pharmacology, 2025

TIMP1 inhibits Rac1-mediated ROS production to ameliorate blood-spinal cord barrier disruption in amyotrophic lateral sclerosis.

Tang J et al.

Neurobiology of Disease, 2025

Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2025

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

Falace A et al.

Neurobiology of Disease, 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

Nod1-dependent NF-kB activation initiates hematopoietic stem cell specification in response to small Rho GTPases.

Cheng X et al.

Nature Communications, 2023

PPP2R1A regulates migration persistence through the NHSL1-containing WAVE Shell Complex.

Wang Y et al.

Nature Communications, 2023

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

Zhou W et al.

Biorxiv : the Preprint Server for Biology, 2023

Critical role of mitogen-inducible gene 6 in restraining endothelial cell permeability to maintain vascular homeostasis.

Xing L et al.

Journal of Cell Communication and Signaling, 2023

In silico identification and characterization of small-molecule inhibitors specific to RhoG/Rac1 signaling pathway.

Dipankar P et al.

Journal of Biomolecular Structure & Dynamics, 2023

De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease.

Yu L et al.

Journal of Clinical Immunology, 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

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2022

TMED2 binding restricts SMO to the ER and Golgi compartments.

Di Minin G et al.

Plos Biology, 2022

Fine definition of the epitopes on the human gp91phox/NOX2 for the monoclonal antibodies CL-5 and 48.

Kawai C et al.

Journal of Immunological Methods, 2022

Cancer-associated mutations in VAV1 trigger variegated signaling outputs and T-cell lymphomagenesis.

Robles-Valero J et al.

The Embo Journal, 2021

34617326 (PubMed )
Supplement: EMBJ-40-e108125-s008.pdf

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

A Nucleotide Analog Prevents Colitis-Associated Cancer via Beta-Catenin Independently of Inflammation and Autophagy.

Sheng YH et al.

Cellular and Molecular Gastroenterology and Hepatology, 2021

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

Vav2 catalysis-dependent pathways contribute to skeletal muscle growth and metabolic homeostasis.

Rodríguez-Fdez S et al.

Nature Communications, 2020

33199701 (PubMed )
Supplement: 41467_2020_19489_MOESM2_ESM.pdf

Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.

Won SY et al.

Stem Cells (dayton, Ohio), 2020

The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.

Arrington ME et al.

The Journal of Biological Chemistry, 2020

Pre-Treatment Mutational and Transcriptomic Landscape of Responding Metastatic Melanoma Patients to Anti-PD1 Immunotherapy.

Amato CM et al.

Cancers, 2020

RAC1 as a Therapeutic Target in Malignant Melanoma.

Cannon AC et al.

Trends in Cancer, 2020

Ubiquitination of the scaffold protein IQGAP1 diminishes its interaction with and activation of the Rho GTPase CDC42.

Gorisse L et al.

The Journal of Biological Chemistry, 2020

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

Liu Y et al.

Cancers, 2020

Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.

Bagci H et al.

Nature Cell Biology, 2020

RAC1B: A Guardian of the Epithelial Phenotype and Protector Against Epithelial-Mesenchymal Transition.

Zinn R et al.

Cells, 2019

RAC1P29S Induces a Mesenchymal Phenotypic Switch via Serum Response Factor to Promote Melanoma Development and Therapy Resistance.

Lionarons DA et al.

Cancer Cell, 2019

Epigenetic Regulation of the PTEN-AKT-RAC1 Axis by G9a Is Critical for Tumor Growth in Alveolar Rhabdomyosarcoma.

Bhat AV et al.

Cancer Research, 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

CYRI/ Fam49 Proteins Represent a New Class of Rac1 Interactors.

Whitelaw JA et al.

Communicative & Integrative Biology, 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

Induction of non-apoptotic programmed cell death by oncogenic RAS in human epithelial cells and its suppression by MYC overexpression.

Dendo K et al.

Carcinogenesis, 2018

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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."