Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T149_N150delFs

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.T149_N150delFs
c.447_448delTG
Surrounding Variants
1 paper
NM_000329.3
p.N150S
c.449A>G
1 paper
NM_000329.3
p.N150N
c.450C>T
1 paper
NM_000329.3
p.N150K
c.450C>G
1 paper
NM_000329.3
p.N150delFs
c.448delT
1 paper
NM_000329.3
p.T149_N150del2
c.445_449del6
1 paper
NM_000329.3
p.T149T
c.447C>T
1 paper
NM_000329.3
p.T149T
c.447C>A
1 paper
NM_000329.3
p.F151C
c.452T>G
5 papers
NM_000329.3
p.T149N
c.446C>A
1 paper
NM_000329.3
p.F151fs
c.451_452fs
1 paper
NM_000329.3
p.T149A
c.445A>G
7 papers
NM_000329.3
p.E148D
c.444G>T
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