Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.D302N
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RUVBL1

NM_003707.3:p.D302N

Associated Papers

Aedes aegypti encodes an ATPase-active RUVBL1/2 complex.

Quel NG et al.

International Journal of Biological Macromolecules, 2025

Pontin, a new mutant p53-binding protein, promotes gain-of-function of mutant p53.

Zhao Y et al.

Cell Death and Differentiation, 2015

Abundance of the Fanconi anaemia core complex is regulated by the RuvBL1 and RuvBL2 AAA+ ATPases.

Rajendra E et al.

Nucleic Acids Research, 2014

Chaperone-like activity of the AAA+ proteins Rvb1 and Rvb2 in the assembly of various complexes.

Nano N et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2013

Metabolic stress controls mTORC1 lysosomal localization and dimerization by regulating the TTT-RUVBL1/2 complex.

Kim SG et al.

Molecular Cell, 2013

Structural and functional insights into a dodecameric molecular machine - the RuvBL1/RuvBL2 complex.

Gorynia S et al.

Journal of Structural Biology, 2011

Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.

Venteicher AS et al.

Cell, 2008

Crystal structure of the human AAA+ protein RuvBL1.

Matias PM et al.

The Journal of Biological Chemistry, 2006

An ATPase/helicase complex is an essential cofactor for oncogenic transformation by c-Myc.

Wood MA et al.

Molecular Cell, 2000

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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."