Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G438G

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.G438G
c.1314C>G
Surrounding Variants
1 paper
NM_000329.3
p.G438insFs
c.1313dupG
1 paper
NM_000329.3
p.L437_G438delFs
c.1310_1313del4
1 paper
NM_000329.3
p.G438R
c.1312G>C
1 paper
NM_000329.3
p.L439F
c.1317G>T
1 paper
NM_000329.3
p.L439F
c.1317G>C
1 paper
NM_000329.3
p.L439L
c.1317G>A
3 papers
NM_000329.3
p.L437F
c.1309C>T
1 paper
NM_000329.3
p.N440I
c.1319A>T
6 papers
NM_000329.3
p.G436V
c.1307G>T
1 paper
NM_000329.3
p.Y433_G436insFs
c.1299_1306dup8
2 papers
NM_000329.3
p.G436E
c.1307G>A
2 papers
NM_000329.3
p.H441N
c.1321C>A
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