Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L343*

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
4 papers
NM_000329.3
p.L343*
c.1028T>G
Surrounding Variants
5 papers
NM_000329.3
p.L343*
c.1028T>A
1 paper
NM_000329.3
p.L343L
c.1027T>C
1 paper
NM_000329.3
p.A344P
c.1030G>C
3 papers
NM_000329.3
p.A344V
c.1031C>T
2 papers
NM_000329.3
p.A344D
c.1031C>A
1 paper
NM_000329.3
p.Y342C
c.1025A>G
1 paper
NM_000329.3
p.Y342D
c.1024T>G
5 papers
NM_000329.3
p.Y342H
c.1024T>C
1 paper
NM_000329.3
p.A344A
c.1032C>T
1 paper
NM_000329.3
p.L341F
c.1023A>T
1 paper
NM_000329.3
p.L341F
c.1023A>C
42 papers
NM_000329.3
p.L341S
c.1022T>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."