Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A132A

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.A132A
c.396C>A
Surrounding Variants
2 papers
NM_000539.3
p.A132D
c.395C>A
1 paper
NM_000539.3
p.A132V
c.395C>T
1 paper
NM_000539.3
p.A132T
c.394G>A
2 papers
NM_000539.3
p.I133I
c.399C>A
2 papers
NM_000539.3
p.E134K
c.400G>A
26 papers
NM_000539.3
p.E134Q
c.400G>C
20 papers
NM_000539.3
p.L131P
c.392T>C
1 paper
NM_000539.3
p.L131R
c.392T>G
2 papers
NM_000539.3
p.E134A
c.401A>C
1 paper
NM_000539.3
p.L131M
c.391C>A
1 paper
NM_000539.3
p.V130V
c.390C>G
1 paper
NM_000539.3
p.V130V
c.390C>T
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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."