Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I84T

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
2 papers
NM_000329.3
p.I84T
c.251T>C
Surrounding Variants
1 paper
NM_000329.3
p.I84I
c.252C>A
1 paper
NM_000329.3
p.I84F
c.250A>T
1 paper
NM_000329.3
p.I84V
c.250A>G
7 papers
NM_000329.3
p.R85C
c.253C>T
9 papers
NM_000329.3
p.F83L
c.249C>G
9 papers
NM_000329.3
p.F83L
c.249C>A
1 paper
NM_000329.3
p.R85S
c.253C>A
1 paper
NM_000329.3
p.F83C
c.248T>G
1 paper
NM_000329.3
p.F83S
c.248T>C
1 paper
NM_000329.3
p.R85L
c.254G>T
5 papers
NM_000329.3
p.R85H
c.254G>A
10 papers
NM_000329.3
p.F83L
c.247T>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."