Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.V77E
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GUCA1A

NM_001384910.1:p.V77E

Associated Papers

NMR Structure of Retinal Guanylate Cyclase Activating Protein 5 (GCAP5) with R22A Mutation That Abolishes Dimerization and Enhances Cyclase Activation.

Cudia DL et al.

Biochemistry, 2024

Structural basis of retinal membrane guanylate cyclase regulation by GCAP1 and RD3.

Ames JB

Frontiers in Molecular Neuroscience, 2022

NMR and EPR-DEER Structure of a Dimeric Guanylate Cyclase Activator Protein-5 from Zebrafish Photoreceptors.

Cudia D et al.

Biochemistry, 2021

Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs).

Ames JB

International Journal of Molecular Sciences, 2021

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.

Peshenko IV et al.

The Journal of Biological Chemistry, 2020

Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca2+ or Mg2+: Hints to Understand Protein Activity.

Bonì F et al.

Biomolecules, 2020

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

Vocke F et al.

Human Molecular Genetics, 2017

Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State.

Lim S et al.

The Journal of Biological Chemistry, 2016

Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).

Peshenko IV et al.

The Journal of Biological Chemistry, 2014

Structural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1.

Lim S et al.

Frontiers in Molecular Neuroscience, 2014

Structural insights for activation of retinal guanylate cyclase by GCAP1.

Lim S et al.

Plos One, 2013

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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."