Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V63I

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
4 papers
NM_000539.3
p.V63I
c.187G>A
Surrounding Variants
2 papers
NM_000539.3
p.T62T
c.186C>A
1 paper
NM_000539.3
p.T62T
c.186C>G
1 paper
NM_000539.3
p.T62T
c.186C>T
1 paper
NM_000539.3
p.V63D
c.188T>A
3 papers
NM_000539.3
p.V63A
c.188T>C
1 paper
NM_000539.3
p.V63G
c.188T>G
10 papers
NM_000539.3
p.T62N
c.185C>A
1 paper
NM_000539.3
p.V63V
c.189C>T
1 paper
NM_000539.3
p.V63_L72del10
c.187_215del30
4 papers
NM_000539.3
p.T62A
c.184A>G
1 paper
NM_000539.3
p.Q64K
c.190C>A
19 papers
NM_000539.3
p.Q64*
c.190C>T
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