Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E332D

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
2 papers
NM_000539.3
p.E332D
c.996G>T
Surrounding Variants
2 papers
NM_000539.3
p.E332D
c.996G>C
2 papers
NM_000539.3
p.E332A
c.995A>C
1 paper
NM_000539.3
p.E332G
c.995A>G
1 paper
NM_000539.3
p.E332V
c.995A>T
1 paper
NM_000539.3
p.A333T
c.997G>A
1 paper
NM_000539.3
p.A333insFs
c.999dupC
1 paper
NM_000539.3
p.A333delFs
c.999delC
7 papers
NM_000539.3
p.A333V
c.998C>T
3 papers
NM_000539.3
p.E332Q
c.994G>C
2 papers
NM_000539.3
p.E332_A333insFs
c.995_998dup4
1 paper
NM_000539.3
p.E332fs
c.994_995fs
2 papers
NM_000539.3
p.E332fs
c.994_995fs
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."