Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S270I

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.S270I
c.809G>T
Surrounding Variants
16 papers
NM_000539.3
p.S270R
c.808A>C
1 paper
NM_000539.3
p.S270G
c.808A>G
16 papers
NM_000539.3
p.S270R
c.810C>A
16 papers
NM_000539.3
p.S270R
c.810C>G
1 paper
NM_000539.3
p.S270S
c.810C>T
3 papers
NM_000539.3
p.V271M
c.811G>A
1 paper
NM_000539.3
p.A269D
c.806C>A
6 papers
NM_000539.3
p.A269G
c.806C>G
1 paper
NM_000539.3
p.A269V
c.806C>T
7 papers
NM_000539.3
p.A269T
c.805G>A
1 paper
NM_000539.3
p.A269fs
c.805_806fs
1 paper
NM_000539.3
p.A272_F283del12
c.814_848del36
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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."