Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E148K

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.E148K
c.442G>A
Surrounding Variants
1 paper
NM_000329.3
p.E148*
c.442G>T
2 papers
NM_000329.3
p.E148Q
c.442G>C
4 papers
NM_000329.3
p.T147delFs
c.440_441delTG
7 papers
NM_000329.3
p.E148D
c.444G>T
7 papers
NM_000329.3
p.E148D
c.444G>C
1 paper
NM_000329.3
p.T147I
c.440C>T
4 papers
NM_000329.3
p.T147S
c.439A>T
2 papers
NM_000329.3
p.T147A
c.439A>G
1 paper
NM_000329.3
p.T149A
c.445A>G
1 paper
NM_000329.3
p.T147P
c.439A>C
1 paper
NM_000329.3
p.T147_E148ins4
c.439_443ins12
1 paper
NM_000329.3
p.T147fs
c.439_440fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."