Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G114V

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
18 papers
NM_000539.3
p.G114V
c.341G>T
Surrounding Variants
27 papers
NM_000539.3
p.G114D
c.341G>A
4 papers
NM_000539.3
p.G114A
c.341G>C
1 paper
NM_000539.3
p.G114G
c.342C>T
1 paper
NM_000539.3
p.G114S
c.340G>A
6 papers
NM_000539.3
p.G114R
c.340G>C
1 paper
NM_000539.3
p.G114_F115del1
c.341_343delGCT
5 papers
NM_000539.3
p.E113D
c.339G>C
4 papers
NM_000539.3
p.E113D
c.339G>T
4 papers
NM_000539.3
p.F115I
c.343T>A
1 paper
NM_000539.3
p.E113insFs
c.339dupG
6 papers
NM_000539.3
p.E113A
c.338A>C
1 paper
NM_000539.3
p.F115S
c.344T>C
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