Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V139G

RPE65

859 papers

RefSeq Summary

The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of...

Pfam Domains

RPE65aa 15–532UCSCRetinal pigment epithelial membrane protein

Gene Aliases

HGNC Name

retinoid isomerohydrolase RPE65

HGNC Previous Symbol

RP20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000329.3
p.V139G
c.416T>G
Surrounding Variants
1 paper
NM_000329.3
p.V139E
c.416T>A
1 paper
NM_000329.3
p.V139V
c.417G>C
1 paper
NM_000329.3
p.V139V
c.417G>A
1 paper
NM_000329.3
p.V139M
c.415G>A
1 paper
NM_000329.3
p.V139fs
c.415_416fs
1 paper
NM_000329.3
p.P138delFs
c.414delT
1 paper
NM_000329.3
p.G140W
c.418G>T
1 paper
NM_000329.3
p.G140R
c.418G>C
1 paper
NM_000329.3
p.G140R
c.418G>A
7 papers
NM_000329.3
p.G140E
c.419G>A
1 paper
NM_000329.3
p.P138L
c.413C>T
1 paper
NM_000329.3
p.E141*
c.421G>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."