Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.H80insFs

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.H80insFs
c.238dupC
Surrounding Variants
4 papers
NM_000329.3
p.R81I
c.242G>T
15 papers
NM_000329.3
p.Y79H
c.235T>C
2 papers
NM_000329.3
p.R81S
c.243A>T
1 paper
NM_000329.3
p.R82fs
c.244_245fs
1 paper
NM_000329.3
p.T78T
c.234A>T
4 papers
NM_000329.3
p.R82K
c.245G>A
1 paper
NM_000329.3
p.T78P
c.232A>C
1 paper
NM_000329.3
p.T78fs
c.232_233fs
1 paper
NM_000329.3
p.R82insFs
c.245dupG
1 paper
NM_000329.3
p.R82Splc
c.245+2T>C
1 paper
NM_000329.3
p.V77insFs
c.230dupT
3 papers
NM_000329.3
p.V77V
c.231C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."