Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K453N

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.K453N
c.1359A>T
Surrounding Variants
2 papers
NM_000329.3
p.K453N
c.1359A>C
2 papers
NM_000329.3
p.T454S
c.1360A>T
1 paper
NM_000329.3
p.V452_K453del2
c.1354_1358del6
2 papers
NM_000329.3
p.T454S
c.1361C>G
1 paper
NM_000329.3
p.T454delFs
c.1360delT
2 papers
NM_000329.3
p.K453E
c.1357A>G
7 papers
NM_000329.3
p.V452G
c.1355T>G
1 paper
NM_000329.3
p.V452I
c.1354G>A
2 papers
NM_000329.3
p.K455R
c.1364A>G
2 papers
NM_000329.3
p.E456Q
c.1366G>C
1 paper
NM_000329.3
p.E456K
c.1366G>A
1 paper
NM_000329.3
p.E456fs
c.1366_1367fs
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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."