Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S22N

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.S22N
c.65G>A
Surrounding Variants
2 papers
NM_000539.3
p.S22T
c.65G>C
2 papers
NM_000539.3
p.P23insFs
c.69dupC
3 papers
NM_000539.3
p.S22R
c.64A>C
3 papers
NM_000539.3
p.S22R
c.66C>A
3 papers
NM_000539.3
p.S22R
c.66C>G
2 papers
NM_000539.3
p.S22S
c.66C>T
2 papers
NM_000539.3
p.P23T
c.67C>A
17 papers
NM_000539.3
p.P23A
c.67C>G
3 papers
NM_000539.3
p.P23S
c.67C>T
860 papers
NM_000539.3
p.P23H
c.68C>A
1 paper
NM_000539.3
p.P23insFs
c.68_69insA
3 papers
NM_000539.3
p.P23R
c.68C>G
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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."