Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I179T

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.I179T
c.536T>C
Surrounding Variants
1 paper
NM_000539.3
p.I179N
c.536T>A
3 papers
NM_000539.3
p.P180delFs
c.540delC
10 papers
NM_000539.3
p.I179F
c.535A>T
6 papers
NM_000539.3
p.P180T
c.538C>A
24 papers
NM_000539.3
p.P180A
c.538C>G
12 papers
NM_000539.3
p.P180S
c.538C>T
53 papers
NM_000539.3
p.Y178C
c.533A>G
2 papers
NM_000539.3
p.Y178F
c.533A>T
4 papers
NM_000539.3
p.P180R
c.539C>G
3 papers
NM_000539.3
p.P180L
c.539C>T
1 paper
NM_000539.3
p.P180P
c.540C>G
1 paper
NM_000539.3
p.P180P
c.540C>T
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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."