Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A233A

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.A233A
c.699C>G
Surrounding Variants
1 paper
NM_000539.3
p.A233A
c.699C>T
1 paper
NM_000539.3
p.A233G
c.698C>G
1 paper
NM_000539.3
p.A234T
c.700G>A
1 paper
NM_000539.3
p.A234S
c.700G>T
1 paper
NM_000539.3
p.A234G
c.701C>G
1 paper
NM_000539.3
p.A233T
c.697G>A
1 paper
NM_000539.3
p.A233P
c.697G>C
1 paper
NM_000539.3
p.A233S
c.697G>T
1 paper
NM_000539.3
p.E232_A233Splc
c.697-2A>G
1 paper
NM_000539.3
p.A235T
c.703G>A
2 papers
NM_000539.3
p.E232_A233Splc
c.697-3C>A
1 paper
NM_000539.3
p.A235D
c.704C>A
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