Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Y180F

APOE

2,396 papers

RefSeq Summary

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich li...

Pfam Domains

Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein E

HGNC Previous Symbol

AD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000041.4
p.Y180F
c.539A>T
Surrounding Variants
3 papers
NM_000041.4
p.V179A
c.536T>C
1 paper
NM_000041.4
p.V179M
c.535G>A
1 paper
NM_001302688.2
p.A208P
c.622G>C
1 paper
NM_000041.4
p.A182insFs
c.544_545ins5
1 paper
NM_001302688.2
p.A208S
c.622G>T
1 paper
NM_000041.4
p.A182A
c.546C>G
1 paper
NM_000041.4
p.A178T
c.532G>A
3 papers
NM_000041.4
p.G183R
c.547G>A
3 papers
NM_000041.4
p.G183R
c.547G>C
1 paper
NM_000041.4
p.G183A
c.548G>C
2 papers
NM_000041.4
p.G183V
c.548G>T
1 paper
NM_000041.4
p.L177P
c.530T>C
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