Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L403P

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
3 papers
NM_000329.3
p.L403P
c.1208T>C
Surrounding Variants
1 paper
NM_000329.3
p.L403L
c.1209G>A
2 papers
NM_000329.3
p.L403M
c.1207C>A
1 paper
NM_000329.3
p.L403insFs
c.1208_1209dupTG
1 paper
NM_000329.3
p.E404insFs
c.1210_1211ins4
10 papers
NM_000329.3
p.W402*
c.1206G>A
1 paper
NM_000329.3
p.E404K
c.1210G>A
3 papers
NM_000329.3
p.E404fs
c.1210_1211fs
2 papers
NM_000329.3
p.W402S
c.1205G>C
11 papers
NM_000329.3
p.W402*
c.1205G>A
1 paper
NM_000329.3
p.E404G
c.1211A>G
1 paper
NM_000329.3
p.E404insFs
c.1210dupG
3 papers
NM_000329.3
p.L403_E404insFs
c.1207_1210dup4
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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."