Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V443I

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
4 papers
NM_000329.3
p.V443I
c.1327G>A
Surrounding Variants
10 papers
NM_000329.3
p.V443A
c.1328T>C
1 paper
NM_000329.3
p.V443delFs
c.1327_1328delAC
3 papers
NM_000329.3
p.N440_H441del2
c.1318_1322del6
1 paper
NM_000329.3
p.P444S
c.1330C>T
1 paper
NM_000329.3
p.H441H
c.1323C>T
2 papers
NM_000329.3
p.H441R
c.1322A>G
1 paper
NM_000329.3
p.P444P
c.1332A>G
1 paper
NM_000329.3
p.D445fs
c.1333_1334fs
1 paper
NM_000329.3
p.D445H
c.1333G>C
2 papers
NM_000329.3
p.H441N
c.1321C>A
5 papers
NM_000329.3
p.D445G
c.1334A>G
2 papers
NM_000329.3
p.D445E
c.1335T>G
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