Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N131K

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.N131K
c.393T>G
Surrounding Variants
2 papers
NM_000329.3
p.N131K
c.393T>A
39 papers
NM_000329.3
p.A132T
c.394G>A
1 paper
NM_000329.3
p.V128_N131delFs
c.383_392del10
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.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.L133P
c.398T>C
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.V128G
c.383T>G
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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."