Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K376_A377Splc

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
6 papers
NM_000329.3
p.K376_A377Splc
c.1129-2A>G
Surrounding Variants
1 paper
NM_000329.3
p.A377S
c.1129G>T
1 paper
NM_000329.3
p.K376_A377Splc
c.1129-4C>T
1 paper
NM_000329.3
p.K376_A377Splc
c.1129-4C>G
1 paper
NM_000329.3
p.K376_A377Splc
c.1129-5C>T
2 papers
NM_000329.3
p.A377G
c.1130C>G
1 paper
NM_000329.3
p.K376_A377Splc
c.1129-7C>A
2 papers
NM_000329.3
p.D378V
c.1133A>T
1 paper
NM_000329.3
p.A377_D378ins0
c.1131_1133dupTGA
1 paper
NM_000329.3
p.T379A
c.1135A>G
1 paper
NM_000329.3
p.T379I
c.1136C>T
2 papers
NM_000329.3
p.T379R
c.1136C>G
1 paper
NM_000329.3
p.K376_A377Splc
c.1129-12C>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."