Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S533A

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.S533A
c.1597T>G
Surrounding Variants
9 papers
NM_000329.3
p.S533T
c.1597T>A
1 paper
NM_000329.3
p.S533F
c.1598C>T
2 papers
NM_000329.3
p.S533Y
c.1598C>A
1 paper
NM_000329.3
p.K532K
c.1596A>G
1 paper
NM_000329.3
p.K532I
c.1595A>T
1 paper
NM_000329.3
p.S533_*534delFs
c.1598_1601del4
6 papers
NM_000329.3
p.F530delFs
c.1590delG
1 paper
NM_000329.3
p.F530del1
c.1588_1589delGAA
13 papers
NM_000329.3
p.F530L
c.1590C>G
7 papers
NM_000329.3
p.F530fs
c.1588_1589fs
14 papers
NM_000329.3
p.F530L
c.1590C>A
1 paper
NM_000329.3
p.F530S
c.1589T>C
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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."