Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.K130M
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RD3

NM_001164688.2:p.K130M

Associated Papers

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

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

RD3: a challenge and a promise.

Azadi S

Jsm Biotechnology & Biomedical Engineering, 0

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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."