Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q28Q

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.Q28Q
c.84G>A
Surrounding Variants
27 papers
NM_000539.3
p.Q28H
c.84G>C
27 papers
NM_000539.3
p.Q28H
c.84G>T
6 papers
NM_000539.3
p.Q28R
c.83A>G
1 paper
NM_000539.3
p.Y29H
c.85T>C
1 paper
NM_000539.3
p.Y29C
c.86A>G
3 papers
NM_000539.3
p.Q28K
c.82C>A
2 papers
NM_000539.3
p.Q28E
c.82C>G
3 papers
NM_000539.3
p.Q28*
c.82C>T
1 paper
NM_000539.3
p.P27P
c.81A>G
2 papers
NM_000539.3
p.Y29Y
c.87C>T
1 paper
NM_000539.3
p.P27R
c.80C>G
38 papers
NM_000539.3
p.P27L
c.80C>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."