Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L183insFs

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
2 papers
NM_000539.3
p.L183insFs
c.549dupG
Surrounding Variants
1 paper
NM_000539.3
p.L183Q
c.548T>A
4 papers
NM_000539.3
p.L183P
c.548T>C
2 papers
NM_000539.3
p.L183R
c.548T>G
1 paper
NM_000539.3
p.Q184K
c.550C>A
2 papers
NM_000539.3
p.Q184fs
c.550_551fs
18 papers
NM_000539.3
p.Q184P
c.551A>C
5 papers
NM_000539.3
p.Q184R
c.551A>G
5 papers
NM_000539.3
p.G182D
c.545G>A
10 papers
NM_000539.3
p.G182V
c.545G>T
3 papers
NM_000539.3
p.G182delins
c.545_546delinsAA
31 papers
NM_000539.3
p.G182S
c.544G>A
1 paper
NM_000539.3
p.Q184H
c.552G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."