Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F61L

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
3 papers
NM_000329.3
p.F61L
c.181T>C
Surrounding Variants
1 paper
NM_000329.3
p.F61I
c.181T>A
3 papers
NM_000329.3
p.F61Y
c.182T>A
2 papers
NM_000329.3
p.L60delFs
c.179delA
3 papers
NM_000329.3
p.F61L
c.183T>G
8 papers
NM_000329.3
p.L60P
c.179T>C
3 papers
NM_000329.3
p.F61L
c.183T>A
4 papers
NM_000329.3
p.F61insFs
c.183dupT
2 papers
NM_000329.3
p.D62N
c.184G>A
1 paper
NM_000329.3
p.L60fs
c.178_179fs
6 papers
NM_000329.3
p.H59Q
c.177C>G
6 papers
NM_000329.3
p.H59Q
c.177C>A
3 papers
NM_000329.3
p.G63R
c.187G>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."