Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V87F

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.V87F
c.259G>T
Surrounding Variants
8 papers
NM_000539.3
p.V87L
c.259G>C
35 papers
NM_000539.3
p.V87D
c.260T>A
1 paper
NM_000539.3
p.V87A
c.260T>C
1 paper
NM_000539.3
p.V87G
c.260T>G
1 paper
NM_000539.3
p.V87V
c.261C>A
1 paper
NM_000539.3
p.M86insFs
c.257dupT
1 paper
NM_000539.3
p.M86insFs
c.257_258dupTG
4 papers
NM_000539.3
p.M86L
c.256A>C
2 papers
NM_000539.3
p.M86V
c.256A>G
3 papers
NM_000539.3
p.M86L
c.256A>T
1 paper
NM_000539.3
p.L88L
c.262C>T
1 paper
NM_000539.3
p.L88Q
c.263T>A
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