Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A166_A169del0

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.A166_A169del0
c.498_506del9
Surrounding Variants
1 paper
NM_000539.3
p.L165L
c.495G>T
2 papers
NM_000539.3
p.L165P
c.494T>C
1 paper
NM_000539.3
p.A166D
c.497C>A
3 papers
NM_000539.3
p.A166V
c.497C>T
1 paper
NM_000539.3
p.A166A
c.498C>G
1 paper
NM_000539.3
p.A166A
c.498C>T
1 paper
NM_000539.3
p.A164A
c.492G>A
22 papers
NM_000539.3
p.A164E
c.491C>A
39 papers
NM_000539.3
p.A164V
c.491C>T
2 papers
NM_000539.3
p.C167S
c.499T>A
26 papers
NM_000539.3
p.C167R
c.499T>C
2 papers
NM_000539.3
p.C167G
c.499T>G
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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."