Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V104V

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.V104V
c.312C>T
Surrounding Variants
2 papers
NM_000539.3
p.V104D
c.311T>A
17 papers
NM_000539.3
p.V104I
c.310G>A
5 papers
NM_000539.3
p.V104F
c.310G>T
1 paper
NM_000539.3
p.V104_F105del1
c.312_314delCTT
2 papers
NM_000539.3
p.F103L
c.309C>A
2 papers
NM_000539.3
p.F103L
c.309C>G
1 paper
NM_000539.3
p.F103F
c.309C>T
1 paper
NM_000539.3
p.F105F
c.315C>T
1 paper
NM_000539.3
p.G106_N111del6
c.316_332del18
80 papers
NM_000539.3
p.G106R
c.316G>A
79 papers
NM_000539.3
p.G106R
c.316G>C
25 papers
NM_000539.3
p.G106W
c.316G>T
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