Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G106V

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
4 papers
NM_000539.3
p.G106V
c.317G>T
Surrounding Variants
3 papers
NM_000539.3
p.G106E
c.317G>A
6 papers
NM_000539.3
p.G106A
c.317G>C
80 papers
NM_000539.3
p.G106R
c.316G>A
1 paper
NM_000539.3
p.G106G
c.318G>A
79 papers
NM_000539.3
p.G106R
c.316G>C
25 papers
NM_000539.3
p.G106W
c.316G>T
2 papers
NM_000539.3
p.P107A
c.319C>G
2 papers
NM_000539.3
p.P107S
c.319C>T
1 paper
NM_000539.3
p.F105F
c.315C>T
1 paper
NM_000539.3
p.G106_N111del6
c.316_332del18
1 paper
NM_000539.3
p.P107H
c.320C>A
2 papers
NM_000539.3
p.P107R
c.320C>G
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