Varaico: Literature-Extracted Genetic Variants

Gene:RRAGD
Variant:p.Q121L
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RRAGD

NM_021244.5:p.Q121L

Associated Papers

The cGAS-STING pathway activates transcription factor TFEB to stimulate lysosome biogenesis and pathogen clearance.

Xu Y et al.

Immunity, 2025

MORG1 limits mTORC1 signaling by inhibiting Rag GTPases.

Abudu YP et al.

Molecular Cell, 2024

O-GlcNAc modification of leucyl-tRNA synthetase 1 integrates leucine and glucose availability to regulate mTORC1 and the metabolic fate of leucine.

Kim K et al.

Nature Communications, 2022

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

Leucine-sensing mechanism of leucyl-tRNA synthetase 1 for mTORC1 activation.

Kim S et al.

Cell Reports, 2021

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

Villegas F et al.

Cell Stem Cell, 2019

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.

Deng Y et al.

Human Molecular Genetics, 2018

Control of leucine-dependent mTORC1 pathway through chemical intervention of leucyl-tRNA synthetase and RagD interaction.

Kim JH et al.

Nature Communications, 2017

SZT2 dictates GATOR control of mTORC1 signalling.

Peng M et al.

Nature, 2017

Multistep regulation of TFEB by MTORC1.

Vega-Rubin-de-Celis S et al.

Autophagy, 2017

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

Kwak SS et al.

Cellular Signalling, 2016

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

Petit CS et al.

The Journal of Cell Biology, 2013

Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway.

Han JM et al.

Cell, 2012

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.

Settembre C et al.

The Embo Journal, 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."