Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P107S

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.P107S
c.319C>T
Surrounding Variants
2 papers
NM_000539.3
p.P107A
c.319C>G
1 paper
NM_000539.3
p.P107H
c.320C>A
2 papers
NM_000539.3
p.P107R
c.320C>G
1 paper
NM_000539.3
p.G106G
c.318G>A
2 papers
NM_000539.3
p.P107P
c.321C>A
1 paper
NM_000539.3
p.T108insFs
c.322dupA
1 paper
NM_000539.3
p.P107P
c.321C>T
3 papers
NM_000539.3
p.G106E
c.317G>A
6 papers
NM_000539.3
p.G106A
c.317G>C
4 papers
NM_000539.3
p.G106V
c.317G>T
1 paper
NM_000539.3
p.T108P
c.322A>C
2 papers
NM_000539.3
p.T108A
c.322A>G
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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."