Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.G57V
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RD3

NM_001164688.2:p.G57V

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Molday LL et al.

Frontiers in Molecular Neuroscience, 2014

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN et al.

Investigative Ophthalmology & Visual Science, 2012

Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.

Peshenko IV et al.

Biochemistry, 2011

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS et al.

American Journal of Human Genetics, 2006

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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."