Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q184P
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RHO

NM_000539.3:p.Q184P

Associated Papers

Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.

Ortega JT et al.

Plos Biology, 2025

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Roushar FJ et al.

The Journal of Biological Chemistry, 2022

35850308 (PubMed )
Supplement: mmc1.pdf

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_S1_LOVD.xlsx › LOVD_2022-04-19

Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.

Vats A et al.

Jci Insight, 2022

Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.

Wang J et al.

Experimental Eye Research, 2019

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State.

Mallory DP et al.

Biochemistry, 2018

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Froebel BR et al.

Investigative Ophthalmology & Visual Science, 2017

28715844 (PubMed )
Supplement: iovs-58-05-25_s02.pdf

Inverse agonism of SQ 29,548 and Ramatroban on Thromboxane A2 receptor.

Chakraborty R et al.

Plos One, 2014

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Rhodopsin gene expression determines rod outer segment size and rod cell resistance to a dominant-negative neurodegeneration mutant.

Price BA et al.

Plos One, 2012

Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.

Felline A et al.

Journal of Chemical Theory and Computation, 2009

[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].

Wang DY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Wang DY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.

Padrón-García JA et al.

Proteins, 2004

Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.

Dryja TP et al.

Investigative Ophthalmology & Visual Science, 2000

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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