Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V369A

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.V369A
c.1106T>C
Surrounding Variants
1 paper
NM_000329.3
p.V369V
c.1107A>T
1 paper
NM_000329.3
p.V369V
c.1107A>G
1 paper
NM_000329.3
p.Y368*
c.1104T>G
1 paper
NM_000329.3
p.Y368Y
c.1104T>C
1 paper
NM_000329.3
p.Y368*
c.1104T>A
1 paper
NM_000329.3
p.L370F
c.1108C>T
2 papers
NM_000329.3
p.L370I
c.1108C>A
2 papers
NM_000329.3
p.V369delFs
c.1107delT
1 paper
NM_000329.3
p.L370P
c.1109T>C
3 papers
NM_000329.3
p.L370H
c.1109T>A
1 paper
NM_000329.3
p.Y368F
c.1103A>T
8 papers
NM_000329.3
p.Y368C
c.1103A>G
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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."