Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.Y35F
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RHEB

NM_005614.4:p.Y35F

Associated Papers

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Mayo S et al.

International Journal of Molecular Sciences, 2022

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II.

Zhao S et al.

Experimental & Molecular Medicine, 2019

Point mutations of the mTOR-RHEB pathway in renal cell carcinoma.

Ghosh AP et al.

Oncotarget, 2015

An autoinhibited noncanonical mechanism of GTP hydrolysis by Rheb maintains mTORC1 homeostasis.

Mazhab-Jafari MT et al.

Structure (london, England : 1993), 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."