Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V128G

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.V128G
c.383T>G
Surrounding Variants
1 paper
NM_000329.3
p.E127delFs
c.381delC
2 papers
NM_000329.3
p.V128F
c.382G>T
1 paper
NM_000329.3
p.V128L
c.382G>C
1 paper
NM_000329.3
p.V128I
c.382G>A
3 papers
NM_000329.3
p.T129I
c.386C>T
1 paper
NM_000329.3
p.E127*
c.379G>T
1 paper
NM_000329.3
p.V126fs
c.376_377fs
1 paper
NM_000329.3
p.V126G
c.377T>G
3 papers
NM_000329.3
p.V126delFs
c.376delC
1 paper
NM_000329.3
p.D130V
c.389A>T
1 paper
NM_000329.3
p.D130delFs
c.388delC
1 paper
NM_000329.3
p.V126I
c.376G>A
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