Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T39N

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
2 papers
NM_000329.3
p.T39N
c.116C>A
Surrounding Variants
1 paper
NM_000329.3
p.W37_L38del0
c.109_114del6
3 papers
NM_000329.3
p.L36_L38del0
c.106_114del9
40 papers
NM_000329.3
p.G40S
c.118G>A
1 paper
NM_000329.3
p.L38R
c.113T>G
1 paper
NM_000329.3
p.L38H
c.113T>A
1 paper
NM_000329.3
p.G40V
c.119G>T
6 papers
NM_000329.3
p.G40D
c.119G>A
1 paper
NM_000329.3
p.L38F
c.112C>T
4 papers
NM_000329.3
p.L38I
c.112C>A
4 papers
NM_000329.3
p.W37S
c.110G>C
1 paper
NM_000329.3
p.S41T
c.122G>C
1 paper
NM_000329.3
p.S41N
c.122G>A
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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."