Varaico: Literature-Extracted Genetic Variants

Gene:RRAGA
Variant:p.Q66L
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RRAGA

NM_006570.5:p.Q66L

Associated Papers

The lysosomal LAMTOR-Rag complex functions as a checkpoint for antiviral interferon production.

Feng Z et al.

The Embo Journal, 2026

Proteotoxic stress triggers TFEB- and TFE3-mediated autophagy and lysosomal biogenesis via non-canonical MTORC1 inactivation.

Zhu Z et al.

Autophagy, 2026

FBXO2-mediated KPTN ubiquitination promotes amino acid-dependent mTORC1 signaling and tumor growth.

Gao J et al.

The Journal of Clinical Investigation, 2025

Structural basis for mTORC1 activation on the lysosomal membrane.

Cui Z et al.

Nature, 2025

The primate-specific Nedd4-1(NE) localizes to late endosomes in response to amino acids to suppress autophagy.

Kefalas G et al.

Nature Communications, 2025

Hyperactivation of mTORC1 by an endogenous raga-1 gain-of-function mutation does not reduce lifespan in C. elegans.

Moreno TM et al.

Micropublication Biology, 2025

Structural basis for growth factor and nutrient signal integration on the lysosomal membrane by mTORC1.

Cui Z et al.

Biorxiv : the Preprint Server for Biology, 2024

Spatial and functional separation of mTORC1 signalling in response to different amino acid sources.

Fernandes SA et al.

Nature Cell Biology, 2024

Pressure sensing of lysosomes enables control of TFEB responses in macrophages.

Cai R et al.

Nature Cell Biology, 2024

Hepatic nutrient and hormone signaling to mTORC1 instructs the postnatal metabolic zonation of the liver.

Plata-Gómez AB et al.

Nature Communications, 2024

MORG1 limits mTORC1 signaling by inhibiting Rag GTPases.

Abudu YP et al.

Molecular Cell, 2024

PRMT1 orchestrates with SAMTOR to govern mTORC1 methionine sensing via Arg-methylation of NPRL2.

Jiang C et al.

Cell Metabolism, 2023

Malonyl-CoA is a conserved endogenous ATP-competitive mTORC1 inhibitor.

Nicastro R et al.

Nature Cell Biology, 2023

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.

Sambri I et al.

Nature Communications, 2023

37188688 (PubMed )
Supplement: 41467_2023_38428_MOESM1_ESM.pdf

Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.

Cui Z et al.

Nature, 2023

Ring domains are essential for GATOR2-dependent mTORC1 activation.

Jiang C et al.

Molecular Cell, 2023

Chlorpromazine affects autophagy in association with altered Rag GTPase-mTORC1-TFEB signaling.

Li N et al.

Frontiers in Cell and Developmental Biology, 2023

Intracellular galectin-3 is a lipopolysaccharide sensor that promotes glycolysis through mTORC1 activation.

Chen X et al.

Nature Communications, 2022

A Rag GTPase dimer code defines the regulation of mTORC1 by amino acids.

Gollwitzer P et al.

Nature Cell Biology, 2022

CRISPR screens unveil signal hubs for nutrient licensing of T cell immunity.

Long L et al.

Nature, 2021

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2021

TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism.

Alesi N et al.

Nature Communications, 2021

Limited survival and impaired hepatic fasting metabolism in mice with constitutive Rag GTPase signaling.

de la Calle Arregui C et al.

Nature Communications, 2021

Genomic Alterations in PIK3CA-Mutated Breast Cancer Result in mTORC1 Activation and Limit the Sensitivity to PI3Kα Inhibitors.

Cai Y et al.

Cancer Research, 2021

The Rag GTPase Regulates the Dynamic Behavior of TSC Downstream of Both Amino Acid and Growth Factor Restriction.

Yang S et al.

Developmental Cell, 2020

Oxidation of multiple MiT/TFE transcription factors links oxidative stress to transcriptional control of autophagy and lysosome biogenesis.

Wang H et al.

Autophagy, 2020

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.

Napolitano G et al.

Nature, 2020

CDK4/6 regulate lysosome biogenesis through TFEB/TFE3.

Yin Q et al.

The Journal of Cell Biology, 2020

32662822 (PubMed )
Supplement: JCB_201911036_TableS5.xlsx › Sheet1

Amino Acid Sensing: Architecture of mTORC1 on the Lysosome Surface.

Peng W et al.

Current Biology : Cb, 2020

Cryo-EM Structure of the Human FLCN-FNIP2-Rag-Ragulator Complex.

Shen K et al.

Cell, 2019

Architecture of human Rag GTPase heterodimers and their complex with mTORC1.

Anandapadamanaban M et al.

Science (new York, N.y.), 2019

Retromer and TBC1D5 maintain late endosomal RAB7 domains to enable amino acid-induced mTORC1 signaling.

Kvainickas A et al.

The Journal of Cell Biology, 2019

Oncogenic Rag GTPase signaling enhances B cell activation and drives follicular lymphoma sensitive to pharmacological inhibition of mTOR.

Ortega-Molina A et al.

Nature Metabolism, 2019

RagA, an mTORC1 activator, interacts with a hedgehog signaling protein, WDR35/IFT121.

Sekiguchi T et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2019

Src regulates amino acid-mediated mTORC1 activation by disrupting GATOR1-Rag GTPase interaction.

Pal R et al.

Nature Communications, 2018

Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes.

Shen K et al.

Nature, 2018

Galectins Control mTOR in Response to Endomembrane Damage.

Jia J et al.

Molecular Cell, 2018

Hybrid Structure of the RagA/C-Ragulator mTORC1 Activation Complex.

Su MY et al.

Molecular Cell, 2017

Structural basis for Ragulator functioning as a scaffold in membrane-anchoring of Rag GTPases and mTORC1.

Zhang T et al.

Nature Communications, 2017

Intersubunit Crosstalk in the Rag GTPase Heterodimer Enables mTORC1 to Respond Rapidly to Amino Acid Availability.

Shen K et al.

Molecular Cell, 2017

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.

Amick J et al.

Molecular Biology of the Cell, 2016

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

Andrzejewska Z et al.

Journal of the American Society of Nephrology : Jasn, 2016

Rag GTPase in amino acid signaling.

Kim J et al.

Amino Acids, 2016

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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."