Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L42L

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.L42L
c.126C>G
Surrounding Variants
1 paper
NM_000329.3
p.L42L
c.126C>A
3 papers
NM_000329.3
p.L42P
c.125T>C
5 papers
NM_000329.3
p.L43P
c.128T>C
7 papers
NM_000329.3
p.L42F
c.124C>T
1 paper
NM_000329.3
p.S41T
c.122G>C
1 paper
NM_000329.3
p.S41N
c.122G>A
34 papers
NM_000329.3
p.R44*
c.130C>T
2 papers
NM_000329.3
p.R44L
c.131G>T
2 papers
NM_000329.3
p.R44P
c.131G>C
50 papers
NM_000329.3
p.R44Q
c.131G>A
19 papers
NM_000329.3
p.R44R
c.132A>T
9 papers
NM_000329.3
p.C45R
c.133T>C
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."