Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A132T

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
39 papers
NM_000329.3
p.A132T
c.394G>A
Surrounding Variants
1 paper
NM_000329.3
p.V128_N131delFs
c.383_392del10
2 papers
NM_000329.3
p.N131K
c.393T>G
2 papers
NM_000329.3
p.N131K
c.393T>A
2 papers
NM_000329.3
p.A132V
c.395C>T
1 paper
NM_000329.3
p.N131D
c.391A>G
1 paper
NM_000329.3
p.L133P
c.398T>C
1 paper
NM_000329.3
p.D130delFs
c.389delT
1 paper
NM_000329.3
p.D130V
c.389A>T
1 paper
NM_000329.3
p.D130delFs
c.388delC
1 paper
NM_000329.3
p.V134I
c.400G>A
3 papers
NM_000329.3
p.T129I
c.386C>T
1 paper
NM_000329.3
p.V134del1
c.400_401delAAC
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."