Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F24I

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
3 papers
NM_000539.3
p.F24I
c.70T>A
Surrounding Variants
5 papers
NM_000539.3
p.F24L
c.70T>C
1 paper
NM_000539.3
p.F24Y
c.71T>A
2 papers
NM_000539.3
p.F24S
c.71T>C
1 paper
NM_000539.3
p.F24C
c.71T>G
860 papers
NM_000539.3
p.P23H
c.68C>A
4 papers
NM_000539.3
p.F24L
c.72C>A
1 paper
NM_000539.3
p.P23insFs
c.68_69insA
3 papers
NM_000539.3
p.P23R
c.68C>G
3 papers
NM_000539.3
p.F24L
c.72C>G
23 papers
NM_000539.3
p.P23L
c.68C>T
1 paper
NM_000539.3
p.F24F
c.72C>T
2 papers
NM_000539.3
p.P23T
c.67C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."