Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G188A

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.G188A
c.563G>C
Surrounding Variants
21 papers
NM_000539.3
p.G188E
c.563G>A
55 papers
NM_000539.3
p.G188R
c.562G>A
55 papers
NM_000539.3
p.G188R
c.562G>C
1 paper
NM_000539.3
p.I189fs
c.565_566fs
2 papers
NM_000539.3
p.C187W
c.561T>G
41 papers
NM_000539.3
p.C187Y
c.560G>A
5 papers
NM_000539.3
p.C187S
c.560G>C
7 papers
NM_000539.3
p.C187F
c.560G>T
1 paper
NM_000539.3
p.I189I
c.567C>T
5 papers
NM_000539.3
p.C187S
c.559T>A
4 papers
NM_000539.3
p.C187R
c.559T>C
4 papers
NM_000539.3
p.C187G
c.559T>G
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