Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G120G

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.G120G
c.360C>G
Surrounding Variants
2 papers
NM_000539.3
p.G120G
c.360C>A
4 papers
NM_000539.3
p.G120G
c.360C>T
7 papers
NM_000539.3
p.G121S
c.361G>A
2 papers
NM_000539.3
p.G120D
c.359G>A
1 paper
NM_000539.3
p.G121R
c.361G>C
3 papers
NM_000539.3
p.G121Splc
c.361+1G>A
5 papers
NM_000539.3
p.G121A
c.362G>C
2 papers
NM_000539.3
p.G120fs
c.358_359fs
6 papers
NM_000539.3
p.G121V
c.362G>T
2 papers
NM_000539.3
p.L119L
c.357G>A
1 paper
NM_000539.3
p.L119Q
c.356T>A
1 paper
NM_000539.3
p.L119R
c.356T>G
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."