Varaico: Literature-Extracted Genetic Variants

Gene:RRAGC
Variant:p.S75F
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RRAGC

NM_022157.4:p.S75F

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

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagCS75Y Cardiomyopathy.

Kim M et al.

International Journal of Molecular Sciences, 2021

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM13_ESM.xlsx › Predicted_Neoantigens

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

De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.

Long PA et al.

Human Genetics, 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."