Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E181E

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.E181E
c.543G>A
Surrounding Variants
1 paper
NM_000539.3
p.E181D
c.543G>C
1 paper
NM_000539.3
p.E181D
c.543G>T
1 paper
NM_000539.3
p.E181A
c.542A>C
2 papers
NM_000539.3
p.E181G
c.542A>G
31 papers
NM_000539.3
p.G182S
c.544G>A
81 papers
NM_000539.3
p.E181K
c.541G>A
5 papers
NM_000539.3
p.G182D
c.545G>A
12 papers
NM_000539.3
p.E181Q
c.541G>C
2 papers
NM_000539.3
p.E181fs
c.541_542fs
10 papers
NM_000539.3
p.G182V
c.545G>T
1 paper
NM_000539.3
p.E181fs
c.541_542fs
3 papers
NM_000539.3
p.G182delins
c.545_546delinsAA
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