Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T400I

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.T400I
c.1199C>T
Surrounding Variants
3 papers
NM_000329.3
p.T400S
c.1199C>G
3 papers
NM_000329.3
p.T400S
c.1198A>T
1 paper
NM_000329.3
p.E399D
c.1197G>T
1 paper
NM_000329.3
p.E399D
c.1197G>C
1 paper
NM_000329.3
p.E399E
c.1197G>A
1 paper
NM_000329.3
p.I401V
c.1201A>G
1 paper
NM_000329.3
p.I401insFs
c.1202_1203ins4
1 paper
NM_000329.3
p.I401N
c.1202T>A
4 papers
NM_000329.3
p.E399K
c.1195G>A
1 paper
NM_000329.3
p.D398_I401del4
c.1192_1202del12
1 paper
NM_000329.3
p.D398D
c.1194C>T
2 papers
NM_000329.3
p.W402S
c.1205G>C
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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."