Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.W350*

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.W350*
c.1049G>A
Surrounding Variants
1 paper
NM_000329.3
p.W350R
c.1048T>C
1 paper
NM_000329.3
p.W350R
c.1048T>A
1 paper
NM_000329.3
p.W350C
c.1050G>T
1 paper
NM_000329.3
p.W350C
c.1050G>C
2 papers
NM_000329.3
p.E351K
c.1051G>A
2 papers
NM_000329.3
p.N349K
c.1047C>G
1 paper
NM_000329.3
p.N349_W350ins1
c.1047_1048insTGG
2 papers
NM_000329.3
p.N349K
c.1047C>A
1 paper
NM_000329.3
p.N349ins1
c.1046_1047insTGG
1 paper
NM_000329.3
p.E351E
c.1053A>G
1 paper
NM_000329.3
p.N349D
c.1045A>G
2 papers
NM_000329.3
p.E352D
c.1056G>T
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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."