Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V227G

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.V227G
c.680T>G
Surrounding Variants
1 paper
NM_000539.3
p.V227V
c.681C>T
2 papers
NM_000539.3
p.V227I
c.679G>A
1 paper
NM_000539.3
p.V227F
c.679G>T
1 paper
NM_000539.3
p.L226L
c.678C>T
2 papers
NM_000539.3
p.L226P
c.677T>C
1 paper
NM_000539.3
p.F228S
c.683T>C
1 paper
NM_000539.3
p.F228C
c.683T>G
1 paper
NM_000539.3
p.T229A
c.685A>G
1 paper
NM_000539.3
p.Q225H
c.675G>C
1 paper
NM_000539.3
p.Q225H
c.675G>T
1 paper
NM_000539.3
p.Q225R
c.674A>G
1 paper
NM_000539.3
p.T229T
c.687C>A
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