Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.D190H

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.D190H
c.568G>C
Surrounding Variants
79 papers
NM_000539.3
p.D190N
c.568G>A
37 papers
NM_000539.3
p.D190Y
c.568G>T
5 papers
NM_000539.3
p.D190A
c.569A>C
35 papers
NM_000539.3
p.D190G
c.569A>G
2 papers
NM_000539.3
p.D190V
c.569A>T
1 paper
NM_000539.3
p.I189I
c.567C>T
6 papers
NM_000539.3
p.D190E
c.570C>A
6 papers
NM_000539.3
p.D190E
c.570C>G
1 paper
NM_000539.3
p.I189fs
c.565_566fs
2 papers
NM_000539.3
p.Y191N
c.571T>A
2 papers
NM_000539.3
p.Y191D
c.571T>G
5 papers
NM_000539.3
p.Y191C
c.572A>G
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