Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I300V

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.I300V
c.898A>G
Surrounding Variants
1 paper
NM_000539.3
p.I300F
c.898A>T
1 paper
NM_000539.3
p.A299V
c.896C>T
1 paper
NM_000539.3
p.A299_P303Fs
c.896_907delinsTFs
7 papers
NM_000539.3
p.A299T
c.895G>A
11 papers
NM_000539.3
p.A299S
c.895G>T
2 papers
NM_000539.3
p.Y301F
c.902A>T
1 paper
NM_000539.3
p.A298A
c.894C>G
1 paper
NM_000539.3
p.A298A
c.894C>T
7 papers
NM_000539.3
p.A298D
c.893C>A
1 paper
NM_000539.3
p.A298G
c.893C>G
1 paper
NM_000539.3
p.A298V
c.893C>T
1 paper
NM_000539.3
p.N302Y
c.904A>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."