Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A415V

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
4 papers
NM_000329.3
p.A415V
c.1244C>T
Surrounding Variants
3 papers
NM_000329.3
p.A415T
c.1243G>A
1 paper
NM_000329.3
p.A415A
c.1245A>G
1 paper
NM_000329.3
p.F416L
c.1246T>C
1 paper
NM_000329.3
p.F416fs
c.1246_1247fs
2 papers
NM_000329.3
p.F416S
c.1247T>C
1 paper
NM_000329.3
p.F416L
c.1248T>G
1 paper
NM_000329.3
p.F416F
c.1248T>C
1 paper
NM_000329.3
p.F416L
c.1248T>A
1 paper
NM_000329.3
p.A415Splc
c.1244-4G>T
1 paper
NM_000329.3
p.A415Splc
c.1244-4G>A
21 papers
NM_000329.3
p.E417Q
c.1249G>C
1 paper
NM_000329.3
p.A415Splc
c.1244-5C>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."