Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S297N

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.S297N
c.890G>A
Surrounding Variants
1 paper
NM_000539.3
p.S297T
c.890G>C
1 paper
NM_000539.3
p.S297I
c.890G>T
20 papers
NM_000539.3
p.S297R
c.889A>C
20 papers
NM_000539.3
p.S297R
c.891C>A
20 papers
NM_000539.3
p.S297R
c.891C>G
3 papers
NM_000539.3
p.S297S
c.891C>T
2 papers
NM_000539.3
p.A298T
c.892G>A
9 papers
NM_000539.3
p.K296N
c.888G>C
8 papers
NM_000539.3
p.K296N
c.888G>T
2 papers
NM_000539.3
p.A298S
c.892G>T
11 papers
NM_000539.3
p.K296R
c.887A>G
25 papers
NM_000539.3
p.K296M
c.887A>T
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."