Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E364D

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.E364D
c.1092A>T
Surrounding Variants
2 papers
NM_000329.3
p.E364E
c.1092A>G
1 paper
NM_000329.3
p.E364D
c.1092A>C
1 paper
NM_000329.3
p.V365I
c.1093G>A
1 paper
NM_000329.3
p.E364V
c.1091A>T
1 paper
NM_000329.3
p.E364Q
c.1090G>C
1 paper
NM_000329.3
p.P363delFs
c.1089delA
1 paper
NM_000329.3
p.P363P
c.1089T>C
1 paper
NM_000329.3
p.Q362_P363delFs
c.1084_1087del4
1 paper
NM_000329.3
p.P363L
c.1088C>T
8 papers
NM_000329.3
p.P363R
c.1088C>G
2 papers
NM_000329.3
p.P363H
c.1088C>A
1 paper
NM_000329.3
p.R366W
c.1096A>T
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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."