Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V20I

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
Selected Variant
2 papers
NM_000539.3
p.V20I
c.58G>A
Surrounding Variants
1 paper
NM_000539.3
p.V20L
c.58G>C
1 paper
NM_000539.3
p.V20L
c.58G>T
1 paper
NM_000539.3
p.V19V
c.57G>A
1 paper
NM_000539.3
p.V19V
c.57G>C
1 paper
NM_000539.3
p.V20A
c.59T>C
49 papers
NM_000539.3
p.V20G
c.59T>G
1 paper
NM_000539.3
p.V20V
c.60A>G
9 papers
NM_000539.3
p.R21C
c.61C>T
4 papers
NM_000539.3
p.V19M
c.55G>A
2 papers
NM_000539.3
p.R21H
c.62G>A
1 paper
NM_000539.3
p.R21P
c.62G>C
1 paper
NM_000539.3
p.R21L
c.62G>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."