Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V345V

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.V345V
c.1035G>C
Surrounding Variants
1 paper
NM_000539.3
p.V345V
c.1035G>A
1 paper
NM_000539.3
p.A346T
c.1036G>A
22 papers
NM_000539.3
p.A346P
c.1036G>C
1 paper
NM_000539.3
p.A346S
c.1036G>T
2 papers
NM_000539.3
p.P347delFs
c.1040delC
3 papers
NM_000539.3
p.V345E
c.1034T>A
7 papers
NM_000539.3
p.V345A
c.1034T>C
6 papers
NM_000539.3
p.V345G
c.1034T>G
1 paper
NM_000539.3
p.P347_A348del0
c.1039_1044del6
1 paper
NM_000539.3
p.A346insFs
c.1037_1038insG
44 papers
NM_000539.3
p.V345M
c.1033G>A
33 papers
NM_000539.3
p.V345L
c.1033G>C
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