Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P419S

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
6 papers
NM_000329.3
p.P419S
c.1255C>T
Surrounding Variants
3 papers
NM_000329.3
p.F418L
c.1254T>G
3 papers
NM_000329.3
p.F418L
c.1254T>A
1 paper
NM_000329.3
p.F418C
c.1253T>G
1 paper
NM_000329.3
p.F418S
c.1253T>C
3 papers
NM_000329.3
p.F418Y
c.1253T>A
1 paper
NM_000329.3
p.F418_P419insG
c.1252_1256ins3
3 papers
NM_000329.3
p.F418L
c.1252T>C
3 papers
NM_000329.3
p.E417D
c.1251G>T
3 papers
NM_000329.3
p.E417D
c.1251G>C
1 paper
NM_000329.3
p.E417E
c.1251G>A
2 papers
NM_000329.3
p.Q420L
c.1259A>T
5 papers
NM_000329.3
p.E417V
c.1250A>T
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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."