Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V250A
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RHO

NM_000539.3:p.V250A

Associated Papers

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

Molecular Variants in Human Trace Amine-Associated Receptors and Their Implications in Mental and Metabolic Disorders.

Rutigliano G et al.

Cellular and Molecular Neurobiology, 2020

Ligand-specific binding and activation of the human adenosine A(2B) receptor.

Thimm D et al.

Biochemistry, 2013

Hydrophobic amino acids at the cytoplasmic ends of helices 3 and 6 of rhodopsin conjointly modulate transducin activation.

Bosch-Presegué L et al.

Archives of Biochemistry and Biophysics, 2011

Rhodopsin mutants discriminate sites important for the activation of rhodopsin kinase and Gt.

Shi W et al.

The Journal of Biological Chemistry, 1995

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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."