Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E113A
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RHO

NM_000539.3:p.E113A

Associated Papers

Disruption of Hydrogen-Bond Network in Rhodopsin Mutations Cause Night Blindness.

Katayama K et al.

Journal of Molecular Biology, 2020

Structural impact of the E113Q counterion mutation on the activation and deactivation pathways of the G protein-coupled receptor rhodopsin.

Standfuss J et al.

Journal of Molecular Biology, 2008

Two-step mechanism of interaction of rhodopsin intermediates with the C-terminal region of the transducin alpha-subunit.

Morizumi T et al.

Journal of Biochemistry, 2003

Partial agonist activity of 11-cis-retinal in rhodopsin mutants.

Han M et al.

The Journal of Biological Chemistry, 1997

Functional interaction of transmembrane helices 3 and 6 in rhodopsin. Replacement of phenylalanine 261 by alanine causes reversion of phenotype of a glycine 121 replacement mutant.

Han M et al.

The Journal of Biological Chemistry, 1996

Characterization of the mutant visual pigment responsible for congenital night blindness: a biochemical and Fourier-transform infrared spectroscopy study.

Zvyaga TA et al.

Biochemistry, 1996

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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."