Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S93R
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RHO

NM_000539.3:p.S93R

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

Rescue of misrouted GnRHR mutants reveals its constitutive activity.

Janovick JA et al.

Molecular Endocrinology (baltimore, Md.), 2012

Receptor-antagonist interactions in the complexes of agouti and agouti-related protein with human melanocortin 1 and 4 receptors.

Chai BX et al.

Biochemistry, 2005

MTSEA prevents ligand binding to the human melanocortin-4 receptor by modification of cysteine 130 in transmembrane helix 3.

Cox A et al.

Febs Letters, 2005

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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."