Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E158D

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.E158D
c.474G>C
Surrounding Variants
1 paper
NM_000329.3
p.E158D
c.474G>T
1 paper
NM_000329.3
p.P157_E158delFs
c.470_473del4
2 papers
NM_000329.3
p.T159S
c.475A>T
1 paper
NM_000329.3
p.T159_L160insAA
c.475_479ins6
1 paper
NM_000329.3
p.E158Q
c.472G>C
2 papers
NM_000329.3
p.T159S
c.476C>G
1 paper
NM_000329.3
p.T159insFs
c.476dupC
1 paper
NM_000329.3
p.P157S
c.469C>T
1 paper
NM_000329.3
p.P157A
c.469C>G
2 papers
NM_000329.3
p.L160F
c.480G>T
2 papers
NM_000329.3
p.L160F
c.480G>C
1 paper
NM_000329.3
p.E161Q
c.481G>C
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