Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V204A

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.V204A
c.611T>C
Surrounding Variants
1 paper
NM_000539.3
p.V204I
c.610G>A
1 paper
NM_000539.3
p.V204F
c.610G>T
1 paper
NM_000539.3
p.I205V
c.613A>G
2 papers
NM_000539.3
p.Y206_F208del3
c.616_623del9
4 papers
NM_000539.3
p.V204_P215del12
c.610_644del36
3 papers
NM_000539.3
p.F203S
c.608T>C
1 paper
NM_000539.3
p.I205T
c.614T>C
2 papers
NM_000539.3
p.I205S
c.614T>G
1 paper
NM_000539.3
p.F203C
c.608T>G
1 paper
NM_000539.3
p.F203I
c.607T>A
1 paper
NM_000539.3
p.S202S
c.606T>C
1 paper
NM_000539.3
p.Y206S
c.617A>C
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