Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N339D

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.N339D
c.1015A>G
Surrounding Variants
1 paper
NM_000329.3
p.N339H
c.1015A>C
2 papers
NM_000329.3
p.N339S
c.1016A>G
2 papers
NM_000329.3
p.N339T
c.1016A>C
1 paper
NM_000329.3
p.N339insFs
c.1015_1016insA
1 paper
NM_000329.3
p.N339N
c.1017T>C
1 paper
NM_000329.3
p.Y338F
c.1013A>T
5 papers
NM_000329.3
p.Y338C
c.1013A>G
1 paper
NM_000329.3
p.V337_Y338insFs
c.1009_1012dup4
1 paper
NM_000329.3
p.Y340F
c.1019A>T
3 papers
NM_000329.3
p.V337A
c.1010T>C
2 papers
NM_000329.3
p.Y340Y
c.1020C>T
1 paper
NM_000329.3
p.L341I
c.1021T>A
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