Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G109R

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
16 papers
NM_000539.3
p.G109R
c.325G>A
Surrounding Variants
17 papers
NM_000539.3
p.G109R
c.325G>C
1 paper
NM_000539.3
p.G109*
c.325G>T
2 papers
NM_000539.3
p.G109A
c.326G>C
1 paper
NM_000539.3
p.T108K
c.323C>A
1 paper
NM_000539.3
p.T108P
c.322A>C
2 papers
NM_000539.3
p.T108A
c.322A>G
5 papers
NM_000539.3
p.C110S
c.328T>A
31 papers
NM_000539.3
p.C110R
c.328T>C
4 papers
NM_000539.3
p.C110G
c.328T>G
1 paper
NM_000539.3
p.C110delFs
c.329delG
2 papers
NM_000539.3
p.P107P
c.321C>A
1 paper
NM_000539.3
p.T108insFs
c.322dupA
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