Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R252C

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.R252C
c.754C>T
Surrounding Variants
1 paper
NM_000539.3
p.R252fs
c.754_755fs
1 paper
NM_000539.3
p.R252fs
c.754_755fs
4 papers
NM_000539.3
p.R252H
c.755G>A
10 papers
NM_000539.3
p.R252P
c.755G>C
4 papers
NM_000539.3
p.I256_I259del0
c.766_777del12
2 papers
NM_000539.3
p.T251I
c.752C>T
2 papers
NM_000539.3
p.R252insFs
c.754dupC
4 papers
NM_000539.3
p.T251A
c.751A>G
2 papers
NM_000539.3
p.M253T
c.758T>C
15 papers
NM_000539.3
p.M253I
c.759G>A
15 papers
NM_000539.3
p.M253I
c.759G>C
2 papers
NM_000539.3
p.V254ins0
c.760_762dupGTC
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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."