Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A292E

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
62 papers
NM_000539.3
p.A292E
c.875C>A
Surrounding Variants
1 paper
NM_000539.3
p.A292V
c.875C>T
2 papers
NM_000539.3
p.F293_V304delFs
c.877_910del34
4 papers
NM_000539.3
p.A292T
c.874G>A
1 paper
NM_000539.3
p.A292A
c.876G>A
1 paper
NM_000539.3
p.A292P
c.874G>C
11 papers
NM_000539.3
p.A292S
c.874G>T
3 papers
NM_000539.3
p.P291R
c.872C>G
1 paper
NM_000539.3
p.F293C
c.878T>G
1 paper
NM_000539.3
p.I290M
c.870C>G
1 paper
NM_000539.3
p.I290I
c.870C>T
1 paper
NM_000539.3
p.I290N
c.869T>A
1 paper
NM_000539.3
p.I290T
c.869T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."