Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.N229S
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PRPH2

NM_000322.5:p.N229S

Associated Papers

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.

Tebbe L et al.

Cells, 2020

Novel molecular mechanisms for Prph2-associated pattern dystrophy.

Chakraborty D et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.

Zulliger R et al.

Human Molecular Genetics, 2018

PRPH2/RDS and ROM-1: Historical context, current views and future considerations.

Stuck MW et al.

Progress in Retinal and Eye Research, 2016

Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.

Stuck MW et al.

The Journal of Biological Chemistry, 2015

SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting.

Zulliger R et al.

Plos One, 2015

Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies.

Wrigley JD et al.

The Journal of Biological Chemistry, 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."