Varaico: Literature-Extracted Genetic Variants

Gene:RRAGC
Variant:p.T90N
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RRAGC

NM_022157.4:p.T90N

Associated Papers

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Ragopathies and the rising influence of RagGTPases on human diseases.

Sambri I et al.

Nature Communications, 2024

RRAGD-Associated Autosomal Dominant Kidney Hypomagnesemia with Cardiomyopathy: A Review on the Clinical Manifestations and Therapeutic Options.

Trepiccione F et al.

Kidney & Blood Pressure Research, 2024

Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma.

Liu Y et al.

Bmc Complementary Medicine and Therapies, 2023

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

Reijnders MRF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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

Gollwitzer P et al.

Nature Cell Biology, 2022

Human B Lymphomas Reveal Their Secrets Through Genetic Mouse Models.

Mossadegh-Keller N et al.

Frontiers in Immunology, 2021

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

Peng W et al.

Current Biology : Cb, 2020

Structural basis for the docking of mTORC1 on the lysosomal surface.

Rogala KB et al.

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

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

Anandapadamanaban M et al.

Science (new York, N.y.), 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

A nutrient-induced affinity switch controls mTORC1 activation by its Rag GTPase-Ragulator lysosomal scaffold.

Lawrence RE et al.

Nature Cell Biology, 2018

Recurrent Mutations in the MTOR Regulator RRAGC in Follicular Lymphoma.

Ying ZX et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma.

Okosun J et al.

Nature Genetics, 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."