Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S93R

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.S93R
c.277A>C
Surrounding Variants
1 paper
NM_000539.3
p.T92T
c.276C>T
2 papers
NM_000539.3
p.S93T
c.278G>C
4 papers
NM_000539.3
p.S93R
c.279C>A
1 paper
NM_000539.3
p.T92N
c.275C>A
1 paper
NM_000539.3
p.S93R
c.279C>G
6 papers
NM_000539.3
p.T92I
c.275C>T
1 paper
NM_000539.3
p.S93S
c.279C>T
1 paper
NM_000539.3
p.T94P
c.280A>C
4 papers
NM_000539.3
p.T94A
c.280A>G
2 papers
NM_000539.3
p.T92A
c.274A>G
6 papers
NM_000539.3
p.T94S
c.280A>T
2 papers
NM_000539.3
p.T94N
c.281C>A
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