Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K425M

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.K425M
c.1274A>T
Surrounding Variants
2 papers
NM_000329.3
p.K425R
c.1274A>G
1 paper
NM_000329.3
p.Q424_K425delFs
c.1271_1274del4
1 paper
NM_000329.3
p.Q424R
c.1271A>G
2 papers
NM_000329.3
p.Q424P
c.1271A>C
2 papers
NM_000329.3
p.Y426*
c.1278T>G
1 paper
NM_000329.3
p.Y426Y
c.1278T>C
2 papers
NM_000329.3
p.Y426*
c.1278T>A
1 paper
NM_000329.3
p.Q424E
c.1270C>G
2 papers
NM_000329.3
p.C427R
c.1279T>C
1 paper
NM_000329.3
p.Y423Y
c.1269C>T
1 paper
NM_000329.3
p.Y423*
c.1269C>G
1 paper
NM_000329.3
p.Y423*
c.1269C>A
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