Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I286T

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.I286T
c.857T>C
Surrounding Variants
1 paper
NM_000539.3
p.I286L
c.856A>C
1 paper
NM_000539.3
p.I286V
c.856A>G
2 papers
NM_000539.3
p.F287fs
c.859_860fs
1 paper
NM_000539.3
p.P285H
c.854C>A
1 paper
NM_000539.3
p.P285R
c.854C>G
1 paper
NM_000539.3
p.P285A
c.853C>G
1 paper
NM_000539.3
p.M288_T289del1
c.863_865delTGA
4 papers
NM_000539.3
p.G284D
c.851G>A
1 paper
NM_000539.3
p.G284A
c.851G>C
13 papers
NM_000539.3
p.G284S
c.850G>A
1 paper
NM_000539.3
p.G284R
c.850G>C
2 papers
NM_000539.3
p.G284C
c.850G>T
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