Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L346F

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
2 papers
NM_000329.3
p.L346F
c.1038A>C
Surrounding Variants
2 papers
NM_000329.3
p.L346F
c.1038A>T
6 papers
NM_000329.3
p.R347C
c.1039C>T
1 paper
NM_000329.3
p.L346I
c.1036T>A
3 papers
NM_000329.3
p.R347L
c.1040G>T
1 paper
NM_000329.3
p.R347P
c.1040G>C
8 papers
NM_000329.3
p.R347H
c.1040G>A
1 paper
NM_000329.3
p.N345K
c.1035T>G
1 paper
NM_000329.3
p.N345K
c.1035T>A
1 paper
NM_000329.3
p.E348*
c.1042G>T
2 papers
NM_000329.3
p.E348K
c.1042G>A
4 papers
NM_000329.3
p.N345S
c.1034A>G
1 paper
NM_000329.3
p.A344A
c.1032C>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."