Varaico: Literature-Extracted Genetic Variants

Gene:RRAGA
Variant:p.T21N
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RRAGA

NM_006570.5:p.T21N

Associated Papers

Structure of the lysosomal KICSTOR-GATOR1-SAMTOR nutrient-sensing supercomplex.

Lupton CJ et al.

Cell, 2026

Global conformation of the Rag GTPase heterodimer governs eukaryotic amino acid sensing.

Doxsey DD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

Alesi N et al.

Nature Communications, 2024

Structure of the Schizosaccharomyces pombe Gtr-Lam complex reveals evolutionary divergence of mTORC1-dependent amino acid sensing.

Tettoni SD et al.

Structure (london, England : 1993), 2023

GATOR2-dependent mTORC1 activity is a therapeutic vulnerability in FOXO1 fusion-positive rhabdomyosarcoma.

Morales J et al.

Jci Insight, 2022

36282590 (PubMed )
Supplement: jciinsight-7-162207-s197.pdf

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

Chen X et al.

Nature Communications, 2022

A New Crosslinking Assay to Study Guanine Nucleotide Binding in the Gtr Heterodimer of S. cerevisiae.

Doxsey DD et al.

Small Gtpases, 2022

Purification and biochemical characterization of the Rag GTPase heterodimer.

Doxsey DD et al.

Methods in Enzymology, 2022

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

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

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

Shen K et al.

Nature, 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

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

Mu Z et al.

Cell Discovery, 2017

Amino acid-dependent NPRL2 interaction with Raptor determines mTOR Complex 1 activation.

Kwak SS et al.

Cellular Signalling, 2016

The ubiquitination of rag A GTPase by RNF152 negatively regulates mTORC1 activation.

Deng L et al.

Molecular Cell, 2015

SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1.

Rebsamen M et al.

Nature, 2015

The amino acid transporter SLC38A9 regulates MTORC1 and autophagy.

Jin M et al.

Autophagy, 2015

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

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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."