Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T432P

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.T432P
c.1294A>C
Surrounding Variants
2 papers
NM_000329.3
p.T432S
c.1294A>T
1 paper
NM_000329.3
p.T432I
c.1295C>T
1 paper
NM_000329.3
p.Y431*
c.1293C>G
2 papers
NM_000329.3
p.T432K
c.1295C>A
1 paper
NM_000329.3
p.Y431*
c.1293C>A
13 papers
NM_000329.3
p.Y431C
c.1292A>G
1 paper
NM_000329.3
p.Y431S
c.1292A>C
4 papers
NM_000329.3
p.Y431H
c.1291T>C
2 papers
NM_000329.3
p.Y433H
c.1297T>C
2 papers
NM_000329.3
p.Y433N
c.1297T>A
1 paper
NM_000329.3
p.P430delFs
c.1289delG
5 papers
NM_000329.3
p.Y433C
c.1298A>G
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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."