Varaico: Literature-Extracted Genetic Variants

Gene:RRAGC
Variant:p.Q120L
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RRAGC

NM_022157.4:p.Q120L

Associated Papers

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

Zhu Z et al.

Autophagy, 2026

mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.

Zwakenberg S et al.

Molecular Cell, 2024

MORG1 limits mTORC1 signaling by inhibiting Rag GTPases.

Abudu YP et al.

Molecular Cell, 2024

TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.

Alesi N et al.

Nature Communications, 2024

VWCE modulates amino acid-dependent mTOR signaling and coordinates with KICSTOR to recruit GATOR1 to the lysosomes.

Zhao T et al.

Nature Communications, 2023

Stimulation of synaptic activity promotes TFEB-mediated clearance of pathological MAPT/Tau in cellular and mouse models of tauopathies.

Akwa Y et al.

Autophagy, 2023

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

Chen X et al.

Nature Communications, 2022

KAT7-mediated CANX (calnexin) crotonylation regulates leucine-stimulated MTORC1 activity.

Yan G et al.

Autophagy, 2022

An mTORC1-mediated negative feedback loop constrains amino acid-induced FLCN-Rag activation in renal cells with TSC2 loss.

Asrani K et al.

Nature Communications, 2022

Aspartate metabolism in endothelial cells activates the mTORC1 pathway to initiate translation during angiogenesis.

Oberkersch RE et al.

Developmental Cell, 2022

Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex.

Hirst J et al.

The Journal of Cell Biology, 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

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

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Villegas F et al.

Cell Stem Cell, 2019

Galectins Control mTOR in Response to Endomembrane Damage.

Jia J et al.

Molecular Cell, 2018

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

Crystal structure of the human lysosomal mTORC1 scaffold complex and its impact on signaling.

de Araujo MEG et al.

Science (new York, N.y.), 2017

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.

Wolfson RL et al.

Nature, 2017

Structural insight into the Ragulator complex which anchors mTORC1 to the lysosomal membrane.

Mu Z et al.

Cell Discovery, 2017

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

Amick J et al.

Molecular Biology of the Cell, 2016

Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma.

Okosun J et al.

Nature Genetics, 2016

Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1.

Wang S et al.

Science (new York, N.y.), 2015

Impairing the production of ribosomal RNA activates mammalian target of rapamycin complex 1 signalling and downstream translation factors.

Liu R et al.

Nucleic Acids Research, 2014

Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging.

Oshiro N et al.

The Journal of Biological Chemistry, 2014

The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.

Tsun ZY et al.

Molecular Cell, 2013

Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases.

Petit CS et al.

The Journal of Cell Biology, 2013

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.

Bar-Peled L et al.

Science (new York, N.y.), 2013

Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1.

Bar-Peled L et al.

Cell, 2012

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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."