Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.D60V
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RHEB

NM_005614.4:p.D60V

Associated Papers

TNFAIP8L2 maintains hair cell function and regulates age-related hearing loss via mTORC1 signaling.

Li W et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.

Sethna S et al.

Nature Communications, 2021

NMR analysis of the backbone dynamics of the small GTPase Rheb and its interaction with the regulatory protein FKBP38.

De Cicco M et al.

Febs Letters, 2018

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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."