Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E150Q

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
4 papers
NM_000539.3
p.E150Q
c.448G>C
Surrounding Variants
51 papers
NM_000539.3
p.E150K
c.448G>A
2 papers
NM_000539.3
p.E150A
c.449A>C
2 papers
NM_000539.3
p.E150G
c.449A>G
1 paper
NM_000539.3
p.G149G
c.447G>A
2 papers
NM_000539.3
p.G149E
c.446G>A
1 paper
NM_000539.3
p.G149A
c.446G>C
1 paper
NM_000539.3
p.E150D
c.450G>C
1 paper
NM_000539.3
p.E150D
c.450G>T
2 papers
NM_000539.3
p.N151D
c.451A>G
2 papers
NM_000539.3
p.G149R
c.445G>A
2 papers
NM_000539.3
p.G149R
c.445G>C
1 paper
NM_000539.3
p.G149W
c.445G>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."