Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E25G

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.E25G
c.74A>G
Surrounding Variants
1 paper
NM_000539.3
p.E25V
c.74A>T
2 papers
NM_000539.3
p.E25K
c.73G>A
2 papers
NM_000539.3
p.E25E
c.75G>A
1 paper
NM_000539.3
p.E25Q
c.73G>C
1 paper
NM_000539.3
p.E25D
c.75G>C
1 paper
NM_000539.3
p.E25D
c.75G>T
4 papers
NM_000539.3
p.F24L
c.72C>A
3 papers
NM_000539.3
p.F24L
c.72C>G
1 paper
NM_000539.3
p.F24F
c.72C>T
1 paper
NM_000539.3
p.Y26C
c.77A>G
1 paper
NM_000539.3
p.F24Y
c.71T>A
2 papers
NM_000539.3
p.F24S
c.71T>C
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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."