Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q225H

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.Q225H
c.675G>T
Surrounding Variants
1 paper
NM_000539.3
p.Q225H
c.675G>C
1 paper
NM_000539.3
p.Q225R
c.674A>G
2 papers
NM_000539.3
p.Q225*
c.673C>T
2 papers
NM_000539.3
p.L226P
c.677T>C
1 paper
NM_000539.3
p.L226L
c.678C>T
4 papers
NM_000539.3
p.G224E
c.671G>A
2 papers
NM_000539.3
p.V227I
c.679G>A
1 paper
NM_000539.3
p.V227F
c.679G>T
4 papers
NM_000539.3
p.G224R
c.670G>A
4 papers
NM_000539.3
p.G224R
c.670G>C
1 paper
NM_000539.3
p.G224_Q225insC
c.670_674ins3
1 paper
NM_000539.3
p.G224delins
c.670_671delinsTA
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