Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.G2A
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RP2

NM_006915.3:p.G2A

Associated Papers

Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.

Lyraki R et al.

Journal of Cell Science, 2018

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Liu F et al.

The Journal of Biological Chemistry, 2017

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

Schwarz N et al.

Human Molecular Genetics, 2012

Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.

Hurd TW et al.

Journal of Cell Science, 2011

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

Hurd T et al.

Human Molecular Genetics, 2010

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

Chapple JP et al.

Human Molecular Genetics, 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."