Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.D190A
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RHO

NM_000539.3:p.D190A

Associated Papers

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Athanasiou D et al.

Human Molecular Genetics, 2014

Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.

Felline A et al.

Journal of Chemical Theory and Computation, 2009

Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa.

Liu X et al.

Proceedings of the National Academy of Sciences of the United States of America, 1996

Acidic residues in extracellular loops of the human Y1 neuropeptide Y receptor are essential for ligand binding.

Walker P et al.

The Journal of Biological Chemistry, 1994

Role of the intradiscal domain in rhodopsin assembly and function.

Doi T et al.

Proceedings of the National Academy of Sciences of the United States of America, 1990

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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."