Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S281A

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
3 papers
NM_000539.3
p.S281A
c.841T>G
Surrounding Variants
3 papers
NM_000539.3
p.S281T
c.841T>A
1 paper
NM_000539.3
p.S281F
c.842C>T
1 paper
NM_000539.3
p.G280D
c.839G>A
1 paper
NM_000539.3
p.G280V
c.839G>T
1 paper
NM_000539.3
p.N282Y
c.844A>T
1 paper
NM_000539.3
p.Q279Q
c.837G>A
2 papers
NM_000539.3
p.Q279P
c.836A>C
1 paper
NM_000539.3
p.F283L
c.847T>C
1 paper
NM_000539.3
p.F283Y
c.848T>A
1 paper
NM_000539.3
p.H278P
c.833A>C
2 papers
NM_000539.3
p.H278L
c.833A>T
1 paper
NM_000539.3
p.F283L
c.849C>A
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