Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.C67Y
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RP2

NM_006915.3:p.C67Y

Associated Papers

A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.

Zhang J et al.

Gene, 2019

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

Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.

Holopainen JM et al.

Biochemistry, 2010

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK et al.

American Journal of Human Genetics, 2002

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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."