Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F91S

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.F91S
c.272T>C
Surrounding Variants
1 paper
NM_000539.3
p.F91L
c.273C>A
1 paper
NM_000539.3
p.F91L
c.273C>G
1 paper
NM_000539.3
p.F91F
c.273C>T
1 paper
NM_000539.3
p.F91I
c.271T>A
1 paper
NM_000539.3
p.F91L
c.271T>C
2 papers
NM_000539.3
p.F91V
c.271T>G
1 paper
NM_000539.3
p.F91_L95del0
c.272_283del12
2 papers
NM_000539.3
p.T92A
c.274A>G
1 paper
NM_000539.3
p.T92N
c.275C>A
6 papers
NM_000539.3
p.T92I
c.275C>T
136 papers
NM_000539.3
p.G90D
c.269G>A
1 paper
NM_000539.3
p.G90A
c.269G>C
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