Varaico: Literature-Extracted Genetic Variants

Gene:RRAGC
Variant:p.S75Y
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RRAGC

NM_022157.4:p.S75Y

Associated Papers

A zebrafish model to study RRAGD variants associated cardiomyopathy.

Sambri I et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2024

An mTOR-Tfeb-Fabp7a signaling axis can be harnessed to ameliorate bag3 cardiomyopathy in adult zebrafish.

Ding Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Ragopathies and the rising influence of RagGTPases on human diseases.

Sambri I et al.

Nature Communications, 2024

Allelic heterogeneity of TTNtv dilated cardiomyopathy can be modeled in adult zebrafish.

Zhu P et al.

Jci Insight, 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

Regulation of mTORC1 by the Rag GTPases.

Lama-Sherpa TD et al.

Biochemical Society Transactions, 2023

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2021

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagCS75Y Cardiomyopathy.

Kim M et al.

International Journal of Molecular Sciences, 2021

The Roles of Post-Translational Modifications on mTOR Signaling.

Yin S et al.

International Journal of Molecular Sciences, 2021

New Insights Into the Role of mTOR Signaling in the Cardiovascular System.

Sciarretta S et al.

Circulation Research, 2018

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Long PA et al.

Journal of Cardiovascular Development and Disease, 2017

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

Long PA et al.

Human 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."