Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N440_H441del2

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
3 papers
NM_000329.3
p.N440_H441del2
c.1318_1322del6
Surrounding Variants
1 paper
NM_000329.3
p.H441H
c.1323C>T
2 papers
NM_000329.3
p.H441R
c.1322A>G
4 papers
NM_000329.3
p.V443I
c.1327G>A
2 papers
NM_000329.3
p.H441N
c.1321C>A
10 papers
NM_000329.3
p.V443A
c.1328T>C
1 paper
NM_000329.3
p.V443delFs
c.1327_1328delAC
1 paper
NM_000329.3
p.N440I
c.1319A>T
1 paper
NM_000329.3
p.P444S
c.1330C>T
1 paper
NM_000329.3
p.L439F
c.1317G>T
1 paper
NM_000329.3
p.L439F
c.1317G>C
1 paper
NM_000329.3
p.L439L
c.1317G>A
1 paper
NM_000329.3
p.P444P
c.1332A>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."