Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V353E

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.V353E
c.1058T>A
Surrounding Variants
2 papers
NM_000329.3
p.V353G
c.1058T>G
2 papers
NM_000329.3
p.E352D
c.1056G>T
2 papers
NM_000329.3
p.E352D
c.1056G>C
11 papers
NM_000329.3
p.E352E
c.1056G>A
1 paper
NM_000329.3
p.K354E
c.1060A>G
7 papers
NM_000329.3
p.V353_K354insFs
c.1059_1060insG
1 paper
NM_000329.3
p.V353delFs
c.1059delC
3 papers
NM_000329.3
p.K354fs
c.1060_1061fs
1 paper
NM_000329.3
p.K354K
c.1062A>G
1 paper
NM_000329.3
p.E351E
c.1053A>G
2 papers
NM_000329.3
p.E351K
c.1051G>A
16 papers
NM_000329.3
p.N356fs
c.1066_1067fs
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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."