Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.D83N

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
17 papers
NM_000539.3
p.D83N
c.247G>A
Surrounding Variants
2 papers
NM_000539.3
p.D83H
c.247G>C
1 paper
NM_000539.3
p.D83Y
c.247G>T
1 paper
NM_000539.3
p.L84insFs
c.250dupC
2 papers
NM_000539.3
p.D83G
c.248A>G
1 paper
NM_000539.3
p.A82A
c.246T>A
1 paper
NM_000539.3
p.A82A
c.246T>C
1 paper
NM_000539.3
p.A82V
c.245C>T
1 paper
NM_000539.3
p.D83D
c.249C>T
1 paper
NM_000539.3
p.L84V
c.250C>G
3 papers
NM_000539.3
p.L84F
c.250C>T
2 papers
NM_000539.3
p.A82T
c.244G>A
2 papers
NM_000539.3
p.V81V
c.243G>A
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