Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R177Splc

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
1 paper
NM_000539.3
p.R177Splc
c.530+1G>A
Surrounding Variants
4 papers
NM_000539.3
p.R177Splc
c.530+1G>C
2 papers
NM_000539.3
p.R177Splc
c.530+1G>T
4 papers
NM_000539.3
p.R177K
c.530G>A
1 paper
NM_000539.3
p.R177T
c.530G>C
1 paper
NM_000539.3
p.S176S
c.528C>T
17 papers
NM_000539.3
p.S176F
c.527C>T
2 papers
NM_000539.3
p.R177Splc
c.530+5T>C
2 papers
NM_000539.3
p.W175L
c.524G>T
1 paper
NM_000539.3
p.R177Splc
c.530+9A>C
1 paper
NM_000539.3
p.W175R
c.523T>A
1 paper
NM_000539.3
p.W175R
c.523T>C
16 papers
NM_000539.3
p.G174S
c.520G>A
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."