Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P180L

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
3 papers
NM_000539.3
p.P180L
c.539C>T
Surrounding Variants
4 papers
NM_000539.3
p.P180R
c.539C>G
6 papers
NM_000539.3
p.P180T
c.538C>A
24 papers
NM_000539.3
p.P180A
c.538C>G
1 paper
NM_000539.3
p.P180P
c.540C>G
12 papers
NM_000539.3
p.P180S
c.538C>T
1 paper
NM_000539.3
p.P180P
c.540C>T
81 papers
NM_000539.3
p.E181K
c.541G>A
12 papers
NM_000539.3
p.E181Q
c.541G>C
2 papers
NM_000539.3
p.E181fs
c.541_542fs
1 paper
NM_000539.3
p.E181fs
c.541_542fs
1 paper
NM_000539.3
p.E181A
c.542A>C
2 papers
NM_000539.3
p.E181G
c.542A>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."