Varaico: Literature-Extracted Genetic Variants

Gene:CDC42
Variant:p.Q61L
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CDC42

NM_001791.4:p.Q61L

Associated Papers

Endothelial tip-cell position, filopodia formation and biomechanics require BMPR2 expression and signaling.

Hiepen C et al.

Communications Biology, 2025

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

Conde J et al.

Molecular Oncology, 2025

TMEM161B modulates radial glial scaffolding in neocortical development.

Wang L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36669109 (PubMed )
Supplement: pnas.2209983120.sapp.pdf

Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.

Velnati S et al.

Frontiers in Immunology, 2023

CDC42 regulates PYRIN inflammasome assembly.

Spel L 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

Structure-based design of CDC42 effector interaction inhibitors for the treatment of cancer.

Jahid S et al.

Cell Reports, 2022

Phosphoinositides containing stearic acid are required for interaction between Rho GTPases and the exocyst to control the late steps of polarized exocytosis.

Laquel P et al.

Traffic (copenhagen, Denmark), 2022

Selectivity Determinants of RHO GTPase Binding to IQGAPs.

Mosaddeghzadeh N et al.

International Journal of Molecular Sciences, 2021

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

Robles-Valero J et al.

The Embo Journal, 2021

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

Haspel N et al.

Biophysical Journal, 2021

The Rho GTPase Cell Division Cycle 42 Regulates Stereocilia Development in Cochlear Hair Cells.

Du H et al.

Frontiers in Cell and Developmental Biology, 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

Cdc42 GTPase regulates ESCRTs in nuclear envelope sealing and ER remodeling.

Lu MS et al.

The Journal of Cell Biology, 2020

ABCA12 regulates insulin secretion from β-cells.

Ursino GM et al.

Embo Reports, 2020

Concerted regulation of actin polymerization during constitutive secretion by cortactin and PKD2.

Weeber F et al.

Journal of Cell Science, 2019

Ubiquitin-dependent regulation of Cdc42 by XIAP.

Murali A et al.

Cell Death & Disease, 2017

The E3 ubiquitin ligase NEDD4 is an LC3-interactive protein and regulates autophagy.

Sun A et al.

Autophagy, 2017

Multiple routes of endocytic internalization of PDGFRβ contribute to PDGF-induced STAT3 signaling.

Jastrzębski K et al.

Journal of Cell Science, 2017

IQGAP1 Interaction with RHO Family Proteins Revisited: KINETIC AND EQUILIBRIUM EVIDENCE FOR MULTIPLE DISTINCT BINDING SITES.

Nouri K et al.

The Journal of Biological Chemistry, 2016

Novel microscopy-based screening method reveals regulators of contact-dependent intercellular transfer.

Frei DM et al.

Scientific Reports, 2015

The GTPase-activating protein Rga1 interacts with Rho3 GTPase and may regulate its function in polarized growth in budding yeast.

He F et al.

Plos One, 2015

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Krauthammer M et al.

Nature Genetics, 2012

22842228 (PubMed )
Supplement: NIHMS390374-supplement-1.pdf

CDK regulates septin organization through cell-cycle-dependent phosphorylation of the Nim1-related kinase Gin4.

Li CR et al.

Journal of Cell Science, 2012

Wsp1 is downstream of Cin1 and regulates vesicle transport and actin cytoskeleton as an effector of Cdc42 and Rac1 in Cryptococcus neoformans.

Shen G et al.

Eukaryotic Cell, 2012

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Boyer O et al.

The New England Journal of Medicine, 2011

22187985 (PubMed )
Supplement: nejmoa1109122_appendix.pdf

PTEN regulates colorectal epithelial apoptosis through Cdc42 signalling.

Deevi R et al.

British Journal of Cancer, 2011

Glioblastoma motility occurs in the absence of actin polymer.

Panopoulos A et al.

Molecular Biology of the Cell, 2011

The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.

Gao L et al.

The American Journal of Pathology, 2011

Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2).

Sun H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Nervous wreck and Cdc42 cooperate to regulate endocytic actin assembly during synaptic growth.

Rodal AA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Identification of a DOCK180-related guanine nucleotide exchange factor that is capable of mediating a positive feedback activation of Cdc42.

Lin Q et al.

The Journal of Biological Chemistry, 2006

Specificity determinants on Cdc42 for binding its effector protein ACK.

Elliot-Smith AE et al.

Biochemistry, 2005

Atypical mechanism of regulation of the Wrch-1 Rho family small GTPase.

Shutes A et al.

Current Biology : Cb, 2004

Dual role of Rac in the assembly of NADPH oxidase, tethering to the membrane and activation of p67phox: a study based on mutagenesis of p67phox-Rac1 chimeras.

Sarfstein R et al.

The Journal of Biological Chemistry, 2004

Glucose regulates the cortical actin network through modulation of Cdc42 cycling to stimulate insulin secretion.

Nevins AK et al.

American Journal of Physiology. Cell Physiology, 2003

Septin ring assembly involves cycles of GTP loading and hydrolysis by Cdc42p.

Gladfelter AS et al.

The Journal of Cell Biology, 2002

Two pathways through Cdc42 couple the N-formyl receptor to actin nucleation in permeabilized human neutrophils.

Glogauer M et al.

The Journal of Cell Biology, 2000

Residues in Cdc42 that specify binding to individual CRIB effector proteins.

Owen D et al.

Biochemistry, 2000

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

Johnson DI

Microbiology and Molecular Biology Reviews : Mmbr, 1999

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

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

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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."