Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L59P

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.L59P
c.176T>C
Surrounding Variants
4 papers
NM_000539.3
p.L59H
c.176T>A
1 paper
NM_000539.3
p.L59R
c.176T>G
1 paper
NM_000539.3
p.L59I
c.175C>A
1 paper
NM_000539.3
p.L59L
c.177C>A
1 paper
NM_000539.3
p.L59L
c.177C>G
2 papers
NM_000539.3
p.L59F
c.175C>T
1 paper
NM_000539.3
p.T58T
c.174G>A
5 papers
NM_000539.3
p.Y60H
c.178T>C
1 paper
NM_000539.3
p.Y60C
c.179A>G
1 paper
NM_000539.3
p.Y60F
c.179A>T
67 papers
NM_000539.3
p.T58R
c.173C>G
11 papers
NM_000539.3
p.T58M
c.173C>T
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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."