Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V407V

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.V407V
c.1221T>C
Surrounding Variants
7 papers
NM_000329.3
p.V407A
c.1220T>C
1 paper
NM_000329.3
p.L408F
c.1222C>T
22 papers
NM_000329.3
p.L408P
c.1223T>C
2 papers
NM_000329.3
p.F409S
c.1226T>C
1 paper
NM_000329.3
p.L408_F409delFs
c.1224_1225delAG
1 paper
NM_000329.3
p.E406K
c.1216G>A
1 paper
NM_000329.3
p.P405insFs
c.1214_1215insC
1 paper
NM_000329.3
p.P405P
c.1215T>C
1 paper
NM_000329.3
p.P405P
c.1215T>A
3 papers
NM_000329.3
p.S410P
c.1228T>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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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."