Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.G159V
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GUCA1B

NM_002098.6:p.G159V

Associated Papers

Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity.

Hoyo NL et al.

Plos Genetics, 2014

Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.

Behnen P et al.

Biological Chemistry, 2010

Guanylate cyclases and associated activator proteins in retinal disease.

Hunt DM et al.

Molecular and Cellular Biochemistry, 2010

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Kitiratschky VB et al.

Human Mutation, 2009

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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."