Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.H278P

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.H278P
c.833A>C
Surrounding Variants
2 papers
NM_000539.3
p.H278L
c.833A>T
1 paper
NM_000539.3
p.H278D
c.832C>G
2 papers
NM_000539.3
p.T277T
c.831C>A
2 papers
NM_000539.3
p.Q279P
c.836A>C
1 paper
NM_000539.3
p.T277S
c.830C>G
1 paper
NM_000539.3
p.T277I
c.830C>T
2 papers
NM_000539.3
p.T277A
c.829A>G
1 paper
NM_000539.3
p.T277S
c.829A>T
1 paper
NM_000539.3
p.Q279Q
c.837G>A
1 paper
NM_000539.3
p.F276F
c.828C>T
1 paper
NM_000539.3
p.G280D
c.839G>A
1 paper
NM_000539.3
p.G280V
c.839G>T
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