Varaico: Literature-Extracted Genetic Variants

Gene:ARF6
Variant:p.Q67L
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ARF6

NM_001663.4:p.Q67L

Associated Papers

An ArfGAP-dependent signaling modulates synaptic plasticity via IP3-regulated calcium release from the endoplasmic reticulum.

Mallik B et al.

Plos Genetics, 2026

GARP Complex in Golgi Physiology.

Khakurel A et al.

Sub-cellular Biochemistry, 2026

Ketoboronate as a Minimal Covalent-Reversible Tag for Targeted Lysosomal Degradation of Extracellular and Membrane Proteins.

Pechalrieu D et al.

Journal of the American Chemical Society, 2025

Iron triggers TvPI4P5K proteostasis and Arf-mediated cell membrane trafficking to regulate PIP2 signaling crucial for multiple pathogenic activities of the parasitic protozoan Trichomonas vaginalis.

Wu K-Y et al.

Mbio, 2025

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Journal of Cell Science, 2024

38606629 (PubMed )
Supplement: joces-137-262140-s1.pdf

Mapping the global interactome of the ARF family reveals spatial organization in cellular signaling pathways.

Quirion L et al.

Biorxiv : the Preprint Server for Biology, 2024

Axonal transport of autophagosomes is regulated by dynein activators JIP3/JIP4 and ARF/RAB GTPases.

Cason SE et al.

The Journal of Cell Biology, 2023

MiniBAR/GARRE1 is a dual Rac and Rab effector required for ciliogenesis.

Serres MP et al.

Developmental Cell, 2023

CNK2 promotes cancer cell motility by mediating ARF6 activation downstream of AXL signalling.

Serwe G et al.

Nature Communications, 2023

Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.

Dou D et al.

Cell Reports, 2023

A Rab10-ACAP1-Arf6 GTPases cascade modulates M4 muscarinic acetylcholine receptor trafficking and signaling.

Xu R et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Fasano G et al.

Nature Communications, 2022

36369169 (PubMed )
Supplement: 41467_2022_34354_MOESM1_ESM.pdf

The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome.

Briševac D et al.

Journal of Neurochemistry, 2021

Constitutive Endocytosis of the Neuronal Glutamate Transporter Excitatory Amino Acid Transporter-3 Requires ARFGAP1.

Saha K et al.

Frontiers in Physiology, 2021

ARF6-Rac1 signaling-mediated neurite outgrowth is potentiated by the neuronal adaptor FE65 through orchestrating ARF6 and ELMO1.

Chan WWR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

CRL5-dependent regulation of the small GTPases ARL4C and ARF6 controls hippocampal morphogenesis.

Han JS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD.

Su MY et al.

Nature, 2020

Critical roles of phosphoinositides and NF2 in Hippo pathway regulation.

Hong AW et al.

Genes & Development, 2020

NMT1 and NMT2 are lysine myristoyltransferases regulating the ARF6 GTPase cycle.

Kosciuk T et al.

Nature Communications, 2020

The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.

Lin L et al.

Plos Genetics, 2020

ADAP1 promotes invasive squamous cell carcinoma progression and predicts patient survival.

Van Duzer A et al.

Life Science Alliance, 2019

COMMD1 and PtdIns(4,5)P2 interaction maintain ATP7B copper transporter trafficking fidelity in HepG2 cells.

Stewart DJ et al.

Journal of Cell Science, 2019

Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.

Hofhuis J et al.

Journal of Cell Science, 2017

Arf6 controls retromer traffic and intracellular cholesterol distribution via a phosphoinositide-based mechanism.

Marquer C et al.

Nature Communications, 2016

ARF6 Is an Actionable Node that Orchestrates Oncogenic GNAQ Signaling in Uveal Melanoma.

Yoo JH et al.

Cancer Cell, 2016

Arf6 controls beta-amyloid production by regulating macropinocytosis of the Amyloid Precursor Protein to lysosomes.

Tang W et al.

Molecular Brain, 2015

Inhibition of Cytohesins Protects against Genetic Models of Motor Neuron Disease.

Zhai J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.

Falace A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Interplay between Rab35 and Arf6 controls cargo recycling to coordinate cell adhesion and migration.

Allaire PD et al.

Journal of Cell Science, 2013

Phosphoinositides and PDZ domain scaffolds.

Wawrzyniak AM et al.

Advances in Experimental Medicine and Biology, 2013

The cytohesin coiled-coil domain interacts with threonine 276 to control membrane association.

Hiester KG et al.

Plos One, 2013

Phosphoinositides differentially regulate protrudin localization through the FYVE domain.

Gil JE et al.

The Journal of Biological Chemistry, 2012

Inhibition of cell migration by PITENINs: the role of ARF6.

Miao B et al.

Oncogene, 2012

Pilt is a coiled-coil domain-containing protein that localizes at the trans-Golgi complex and regulates its structure.

Tamaki H et al.

Febs Letters, 2012

An ARF6/Rab35 GTPase cascade for endocytic recycling and successful cytokinesis.

Chesneau L et al.

Current Biology : Cb, 2012

MICAL-L1 is a tubular endosomal membrane hub that connects Rab35 and Arf6 with Rab8a.

Rahajeng J et al.

Traffic (copenhagen, Denmark), 2012

ARFGAP1 promotes AP-2-dependent endocytosis.

Bai M et al.

Nature Cell Biology, 2011

Decoupling of activation and effector binding underlies ARF6 priming of fast endocytic recycling.

Montagnac G et al.

Current Biology : Cb, 2011

The non-catalytic carboxyl-terminal domain of ARFGAP1 regulates actin cytoskeleton reorganization by antagonizing the activation of Rac1.

Siu KY et al.

Plos One, 2011

SynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapses.

Fukaya M et al.

Journal of Neurochemistry, 2011

ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones.

Figueiredo J et al.

Plos One, 2011

The guanine nucleotide exchange protein for ADP-ribosylation factor 6, ARF-GEP100/BRAG2, regulates phagocytosis of monocytic phagocytes in an ARF6-dependent process.

Someya A et al.

The Journal of Biological Chemistry, 2010

Role of the second cysteine-rich domain and Pro275 in protein kinase D2 interaction with ADP-ribosylation factor 1, trans-Golgi network recruitment, and protein transport.

Pusapati GV et al.

Molecular Biology of the Cell, 2010

Exo70-mediated recruitment of nucleoporin Nup62 at the leading edge of migrating cells is required for cell migration.

Hubert T et al.

Traffic (copenhagen, Denmark), 2009

Dual acylation is required for trafficking of growth-associated protein-43 (GAP-43) to endosomal recycling compartment via an Arf6-associated endocytic vesicular pathway.

Trenchi A et al.

The Biochemical Journal, 2009

ARF6 Interacts with JIP4 to control a motor switch mechanism regulating endosome traffic in cytokinesis.

Montagnac G et al.

Current Biology : Cb, 2009

A-RAF kinase functions in ARF6 regulated endocytic membrane traffic.

Nekhoroshkova E et al.

Plos One, 2009

ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick Type C disease.

Schweitzer JK et al.

Plos One, 2009

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