Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C110Y

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
37 papers
NM_000539.3
p.C110Y
c.329G>A
Surrounding Variants
5 papers
NM_000539.3
p.C110S
c.329G>C
24 papers
NM_000539.3
p.C110F
c.329G>T
2 papers
NM_000539.3
p.C110W
c.330C>G
5 papers
NM_000539.3
p.C110S
c.328T>A
31 papers
NM_000539.3
p.C110R
c.328T>C
4 papers
NM_000539.3
p.C110G
c.328T>G
1 paper
NM_000539.3
p.C110delFs
c.329delG
1 paper
NM_000539.3
p.N111D
c.331A>G
1 paper
NM_000539.3
p.N111T
c.332A>C
2 papers
NM_000539.3
p.N111S
c.332A>G
2 papers
NM_000539.3
p.G109A
c.326G>C
16 papers
NM_000539.3
p.G109R
c.325G>A
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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."