Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.V36F
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RPGR

NM_001034853.2:p.V36F

Associated Papers

Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.

Yang J et al.

Frontiers in Genetics, 2021

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo.

Wätzlich D et al.

Embo Reports, 2013

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.

Patil H et al.

Biology Open, 2012

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K et al.

European Journal of Human Genetics : Ejhg, 2002

Identification of a novel protein interacting with RPGR.

Boylan JP et al.

Human Molecular Genetics, 2000

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

Linari M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."