Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L383I

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.L383I
c.1147T>A
Surrounding Variants
1 paper
NM_000329.3
p.N382_L383insFs
c.1144_1147dup4
1 paper
NM_000329.3
p.L383*
c.1148T>G
1 paper
NM_000329.3
p.L383*
c.1148T>A
3 papers
NM_000329.3
p.V384F
c.1150G>T
1 paper
NM_000329.3
p.V384delFs
c.1150delC
2 papers
NM_000329.3
p.K381N
c.1143G>T
3 papers
NM_000329.3
p.K381N
c.1143G>C
1 paper
NM_000329.3
p.V384V
c.1152C>G
1 paper
NM_000329.3
p.K381R
c.1142A>G
9 papers
NM_000329.3
p.T385M
c.1154C>T
1 paper
NM_000329.3
p.G380G
c.1140C>T
1 paper
NM_000329.3
p.T385insFs
c.1153dupA
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