Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.F409S

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.F409S
c.1226T>C
Surrounding Variants
1 paper
NM_000329.3
p.L408_F409delFs
c.1224_1225delAG
3 papers
NM_000329.3
p.S410P
c.1228T>C
22 papers
NM_000329.3
p.L408P
c.1223T>C
4 papers
NM_000329.3
p.S410*
c.1229C>G
4 papers
NM_000329.3
p.S410*
c.1229C>A
1 paper
NM_000329.3
p.L408F
c.1222C>T
1 paper
NM_000329.3
p.V407V
c.1221T>C
7 papers
NM_000329.3
p.V407A
c.1220T>C
1 paper
NM_000329.3
p.G411G
c.1233G>A
1 paper
NM_000329.3
p.P412S
c.1234C>T
2 papers
NM_000329.3
p.P412T
c.1234C>A
2 papers
NM_000329.3
p.P412L
c.1235C>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."