Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N356S

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.N356S
c.1067A>G
Surrounding Variants
2 papers
NM_000329.3
p.N356fs
c.1066_1067fs
15 papers
NM_000329.3
p.N356insFs
c.1067_1068insA
2 papers
NM_000329.3
p.N356K
c.1068T>G
1 paper
NM_000329.3
p.N356N
c.1068T>C
2 papers
NM_000329.3
p.N356K
c.1068T>A
9 papers
NM_000329.3
p.K354delFs
c.1060delT
16 papers
NM_000329.3
p.N356fs
c.1066_1067fs
2 papers
NM_000329.3
p.A357S
c.1069G>T
1 paper
NM_000329.3
p.A357insFs
c.1069_1070insT
1 paper
NM_000329.3
p.K354_N356delFs
c.1062_1068del7
1 paper
NM_000329.3
p.A357V
c.1070C>T
2 papers
NM_000329.3
p.A357D
c.1070C>A
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