Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.D375D

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.D375D
c.1125C>T
Surrounding Variants
3 papers
NM_000329.3
p.D375E
c.1125C>G
3 papers
NM_000329.3
p.D375E
c.1125C>A
2 papers
NM_000329.3
p.L372_D375delFs
c.1115_1125del11
1 paper
NM_000329.3
p.D375insFs
c.1123_1124insT
2 papers
NM_000329.3
p.D375H
c.1123G>C
3 papers
NM_000329.3
p.D375N
c.1123G>A
1 paper
NM_000329.3
p.I374I
c.1122T>C
2 papers
NM_000329.3
p.K376N
c.1128G>T
2 papers
NM_000329.3
p.K376N
c.1128G>C
2 papers
NM_000329.3
p.K376K
c.1128G>A
2 papers
NM_000329.3
p.I374delFs
c.1120delT
1 paper
NM_000329.3
p.K376_A377Splc
c.1128+1G>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."