Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V250G

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.V250G
c.749T>G
Surrounding Variants
6 papers
NM_000539.3
p.V250A
c.749T>C
2 papers
NM_000539.3
p.R252insFs
c.754dupC
4 papers
NM_000539.3
p.T251A
c.751A>G
1 paper
NM_000539.3
p.E249A
c.746A>C
2 papers
NM_000539.3
p.T251I
c.752C>T
1 paper
NM_000539.3
p.E249K
c.745G>A
2 papers
NM_000539.3
p.E249Q
c.745G>C
28 papers
NM_000539.3
p.E249*
c.745G>T
1 paper
NM_000539.3
p.R252fs
c.754_755fs
3 papers
NM_000539.3
p.R252C
c.754C>T
1 paper
NM_000539.3
p.R252fs
c.754_755fs
2 papers
NM_000539.3
p.K248K
c.744G>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."