Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q64K

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.Q64K
c.190C>A
Surrounding Variants
19 papers
NM_000539.3
p.Q64*
c.190C>T
1 paper
NM_000539.3
p.H65_L68del0
c.194_202del9
1 paper
NM_000539.3
p.Q64P
c.191A>C
1 paper
NM_000539.3
p.Q64R
c.191A>G
2 papers
NM_000539.3
p.Q64L
c.191A>T
1 paper
NM_000539.3
p.H65_R69del0
c.194_205del12
1 paper
NM_000539.3
p.V63V
c.189C>T
2 papers
NM_000539.3
p.Q64H
c.192G>C
2 papers
NM_000539.3
p.Q64H
c.192G>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
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