Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E404insFs

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
1 paper
NM_000329.3
p.E404insFs
c.1210dupG
Surrounding Variants
1 paper
NM_000329.3
p.E404G
c.1211A>G
3 papers
NM_000329.3
p.L403_E404insFs
c.1207_1210dup4
1 paper
NM_000329.3
p.L403insFs
c.1208_1209dupTG
1 paper
NM_000329.3
p.E404insFs
c.1210_1211ins4
1 paper
NM_000329.3
p.E404K
c.1210G>A
3 papers
NM_000329.3
p.E404fs
c.1210_1211fs
1 paper
NM_000329.3
p.L403L
c.1209G>A
3 papers
NM_000329.3
p.P405S
c.1213C>T
1 paper
NM_000329.3
p.P405T
c.1213C>A
3 papers
NM_000329.3
p.L403P
c.1208T>C
1 paper
NM_000329.3
p.P405L
c.1214C>T
1 paper
NM_000329.3
p.P405H
c.1214C>A
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