Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G48_L49insFs

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
5 papers
NM_000329.3
p.G48_L49insFs
c.144_145insT
Surrounding Variants
1 paper
NM_000329.3
p.G48insFs
c.142_143insGA
3 papers
NM_000329.3
p.G48E
c.143G>A
1 paper
NM_000329.3
p.L49F
c.145C>T
2 papers
NM_000329.3
p.L49fs
c.145_146fs
1 paper
NM_000329.3
p.L49R
c.146T>G
1 paper
NM_000329.3
p.P47P
c.141A>T
1 paper
NM_000329.3
p.P47fs
c.139_140fs
1 paper
NM_000329.3
p.P47delFs
c.139delG
1 paper
NM_000329.3
p.L43_P47delFs
c.128_140del13
1 paper
NM_000329.3
p.L49_F50insFs
c.147_148ins4
1 paper
NM_000329.3
p.P47L
c.140C>T
7 papers
NM_000329.3
p.F50S
c.149T>C
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