Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y30H

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.Y30H
c.88T>C
Surrounding Variants
1 paper
NM_000539.3
p.Y30N
c.88T>A
1 paper
NM_000539.3
p.Y30S
c.89A>C
1 paper
NM_000539.3
p.Y30C
c.89A>G
2 papers
NM_000539.3
p.Y29Y
c.87C>T
1 paper
NM_000539.3
p.Y29C
c.86A>G
1 paper
NM_000539.3
p.Y30Y
c.90C>T
1 paper
NM_000539.3
p.L31M
c.91C>A
1 paper
NM_000539.3
p.L31V
c.91C>G
1 paper
NM_000539.3
p.L31L
c.91C>T
1 paper
NM_000539.3
p.Y29H
c.85T>C
1 paper
NM_000539.3
p.Q28Q
c.84G>A
27 papers
NM_000539.3
p.Q28H
c.84G>C
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