Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I374delFs

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.I374delFs
c.1120delT
Surrounding Variants
1 paper
NM_000329.3
p.I374I
c.1122T>C
2 papers
NM_000329.3
p.I374fs
c.1120_1121fs
1 paper
NM_000329.3
p.N373N
c.1119T>C
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
3 papers
NM_000329.3
p.N373S
c.1118A>G
1 paper
NM_000329.3
p.L372_N373delFs
c.1116_1117delTC
1 paper
NM_000329.3
p.D375D
c.1125C>T
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.N373D
c.1117A>G
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