Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F159insFs

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.F159insFs
c.477dupC
Surrounding Variants
1 paper
NM_000539.3
p.F159C
c.476T>G
1 paper
NM_000539.3
p.F159_T160insTAA
c.475_479ins9
1 paper
NM_000539.3
p.A158A
c.474C>T
2 papers
NM_000539.3
p.A158D
c.473C>A
2 papers
NM_000539.3
p.T160I
c.479C>T
5 papers
NM_000539.3
p.T160T
c.480C>A
1 paper
NM_000539.3
p.T160T
c.480C>T
3 papers
NM_000539.3
p.A158T
c.472G>A
7 papers
NM_000539.3
p.W161R
c.481T>A
7 papers
NM_000539.3
p.W161R
c.481T>C
14 papers
NM_000539.3
p.W161*
c.482G>A
3 papers
NM_000539.3
p.W161L
c.482G>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."