Varaico: Literature-Extracted Genetic Variants

Gene:RHO

RHO

2,465 papers

RefSeq Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when lig...

Pfam Domains

Rhodopsin_Naa 2–37UCSCAmino terminal of the G-protein receptor rhodopsin
7tm_1aa 54–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

rhodopsin

HGNC Previous Symbol

RP4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1670 variants
860 papers
NM_000539.3
p.P23H
c.68C>A
220 papers
NM_000539.3
p.P347L
c.1040C>T
194 papers
NM_000539.3
p.T17M
c.50C>T
140 papers
NM_000539.3
p.P347S
c.1039C>T
136 papers
NM_000539.3
p.G90D
c.269G>A
110 papers
NM_000539.3
p.R135W
c.403C>T
97 papers
NM_000539.3
p.K296E
c.886A>G
81 papers
NM_000539.3
p.E181K
c.541G>A
80 papers
NM_000539.3
p.G106R
c.316G>A
79 papers
NM_000539.3
p.G106R
c.316G>C
79 papers
NM_000539.3
p.D190N
c.568G>A
76 papers
NM_000539.3
p.R135L
c.404G>T
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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."