Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E5Q

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.E5Q
c.13G>C
Surrounding Variants
1 paper
NM_000539.3
p.T4T
c.12A>C
1 paper
NM_000539.3
p.E5A
c.14A>C
2 papers
NM_000539.3
p.E5G
c.14A>G
1 paper
NM_000539.3
p.T4T
c.12A>G
1 paper
NM_000539.3
p.E5D
c.15A>C
44 papers
NM_000539.3
p.T4K
c.11C>A
58 papers
NM_000539.3
p.T4R
c.11C>G
1 paper
NM_000539.3
p.T4I
c.11C>T
1 paper
NM_000539.3
p.T4P
c.10A>C
1 paper
NM_000539.3
p.T4S
c.10A>T
3 papers
NM_000539.3
p.G6S
c.16G>A
1 paper
NM_000539.3
p.T4Fs
c.10delinsAAFs
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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."