Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A41T
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RHO

NM_000539.3:p.A41T

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

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.

McClements M et al.

Vision Research, 2013

Ligand binding to the human MT2 melatonin receptor: the role of residues in transmembrane domains 3, 6, and 7.

Mazna P et al.

Biochemical and Biophysical Research Communications, 2005

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD et al.

Gene, 2004

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

Han M et al.

The Journal of Biological Chemistry, 1997

The effects of amino acid replacements of glycine 121 on transmembrane helix 3 of rhodopsin.

Han M et al.

The Journal of Biological Chemistry, 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."