Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB2
Variant:p.Y284D
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RHOBTB2

NM_015178.3:p.Y284D

Associated Papers

Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.

Miyamoto S et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2025

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Langhammer F et al.

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

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

Belal H et al.

Human Mutation, 2018

DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer.

Choi YM et al.

Oncogene, 2017

Rho GTPases of the RhoBTB subfamily and tumorigenesis.

Berthold J et al.

Acta Pharmacologica Sinica, 2008

Mutation analysis of the 8p candidate tumour suppressor genes DBC2 (RHOBTB2) and LZTS1 in bladder cancer.

Knowles MA et al.

Cancer Letters, 2005

RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase complex.

Wilkins A et al.

Genes & Development, 2004

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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."