Varaico: Literature-Extracted Genetic Variants

Gene:CDC42
Variant:p.G12V
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CDC42

NM_001791.4:p.G12V

Associated Papers

A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells.

Daimon E et al.

Brain & Development, 2026

MICAL1 activation by PAK1 mediates actin filament disassembly.

McGarry DJ et al.

Cell Reports, 2022

CDC42-IQGAP Interactions Scrutinized: New Insights into the Binding Properties of the GAP-Related Domain.

Mosaddeghzadeh N et al.

International Journal of Molecular Sciences, 2022

Molecular dynamics simulations reveal the activation mechanism of mutations G12V and Q61L of Cdc42.

Chen S et al.

Proteins, 2022

Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.

Daimon E et al.

Scientific Reports, 2021

Loss-of-Function Mutations in TRAF7 and KLF4 Cooperatively Activate RAS-Like GTPase Signaling and Promote Meningioma Development.

Najm P et al.

Cancer Research, 2021

Active and Inactive Cdc42 Differ in Their Insert Region Conformational Dynamics.

Haspel N et al.

Biophysical Journal, 2021

Roles of the PH, coiled-coil and SAM domains of the yeast polarity protein Boi2 in polarity-site localization and function in polarized growth.

Jia ZW et al.

Current Genetics, 2020

Robo2 regulates synaptic oxytocin content by affecting actin dynamics.

Anbalagan S et al.

Elife, 2019

Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway.

Kalailingam P et al.

Cells, 2019

LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.

Melloni GE et al.

Bmc Bioinformatics, 2016

26860319 (PubMed )
Supplement: 12859_2016_935_MOESM2_ESM.xlsx › Table_S5

Control of polarized growth by the Rho family GTPase Rho4 in budding yeast: requirement of the N-terminal extension of Rho4 and regulation by the Rho GTPase-activating protein Bem2.

Gong T et al.

Eukaryotic Cell, 2013

Novel split-luciferase-based genetically encoded biosensors for noninvasive visualization of Rho GTPases.

Leng W et al.

Plos One, 2013

Structural insights into formation of an active signaling complex between Rac and phospholipase C gamma 2.

Bunney TD et al.

Molecular Cell, 2009

Activation of the Cdc42p GTPase by cyclin-dependent protein kinases in budding yeast.

Sopko R et al.

The Embo Journal, 2007

Stimulation of actin polymerization by vacuoles via Cdc42p-dependent signaling.

Isgandarova S et al.

The Journal of Biological Chemistry, 2007

Separate membrane targeting and anchoring domains function in the localization of the S. cerevisiae Cdc24p guanine nucleotide exchange factor.

Toenjes KA et al.

Current Genetics, 2004

Insulin-like growth factor-I diminishes the activation status and expression of the small GTPase Cdc42 in articular chondrocytes.

Fortier LA et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2004

The regulation of actin remodeling during T-cell-APC conjugate formation.

Cannon JL et al.

Immunological Reviews, 2002

The Cdc42p GTPase is involved in a G2/M morphogenetic checkpoint regulating the apical-isotropic switch and nuclear division in yeast.

Richman TJ et al.

The Journal of Biological Chemistry, 1999

The human WASP-interacting protein, WIP, activates the cell polarity pathway in yeast.

Vaduva G et al.

The Journal of Biological Chemistry, 1999

Cdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.

Johnson DI

Microbiology and Molecular Biology Reviews : Mmbr, 1999

Interaction of Bnr1p with a novel Src homology 3 domain-containing Hof1p. Implication in cytokinesis in Saccharomyces cerevisiae.

Kamei T et al.

The Journal of Biological Chemistry, 1998

The Cdc42p effector Gic2p is targeted for ubiquitin-dependent degradation by the SCFGrr1 complex.

Jaquenoud M et al.

The Embo Journal, 1998

Analysis of the mechanisms of action of the Saccharomyces cerevisiae dominant lethal cdc42G12V and dominant negative cdc42D118A mutations.

Davis CR et al.

The Journal of Biological Chemistry, 1998

Novel Cdc42-binding proteins Gic1 and Gic2 control cell polarity in yeast.

Brown JL et al.

Genes & Development, 1997

Characterization of the Saccharomyces cerevisiae cdc42-1ts allele and new temperature-conditional-lethal cdc42 alleles.

Miller PJ et al.

Yeast (chichester, England), 1997

The yeast phosphatidylinositol kinase homolog TOR2 activates RHO1 and RHO2 via the exchange factor ROM2.

Schmidt A et al.

Cell, 1997

A mechanism of Bud1p GTPase action suggested by mutational analysis and immunolocalization.

Michelitch M et al.

Current Biology : Cb, 1996

Cdc42p GTPase is involved in controlling polarized cell growth in Schizosaccharomyces pombe.

Miller PJ et al.

Molecular and Cellular Biology, 1994

Mutationally activated Rho GTPases in cancer.

Alan JK et al.

Small Gtpases, 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."