Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E462K

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.E462K
c.1384G>A
Surrounding Variants
6 papers
NM_000329.3
p.E462*
c.1384G>T
1 paper
NM_000329.3
p.E462D
c.1386G>T
1 paper
NM_000329.3
p.E462D
c.1386G>C
1 paper
NM_000329.3
p.Q461P
c.1382A>C
1 paper
NM_000329.3
p.Q461*
c.1381C>T
2 papers
NM_000329.3
p.P463T
c.1387C>A
7 papers
NM_000329.3
p.W460C
c.1380G>T
7 papers
NM_000329.3
p.W460C
c.1380G>C
8 papers
NM_000329.3
p.W460*
c.1380G>A
1 paper
NM_000329.3
p.P463H
c.1388C>A
1 paper
NM_000329.3
p.P463fs
c.1387_1388fs
8 papers
NM_000329.3
p.W460*
c.1379G>A
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