Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G121V
Back to variants list

RHO

NM_000539.3:p.G121V

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_S4_guideRNAs.xlsx › Sheet1

Atomistic insights into rhodopsin activation from a dynamic model.

Tikhonova IG et al.

Journal of the American Chemical Society, 2008

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."