Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.S157F

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
1 paper
NM_000041.4
p.S157F
c.470C>T
Surrounding Variants
1 paper
NM_001302688.2
p.H184_K187del4
c.550_560del12
1 paper
NM_000041.4
p.S157T
c.469T>A
27 papers
NM_000041.4
p.H158Y
c.472C>T
1 paper
NM_000041.4
p.A156A
c.468C>T
1 paper
NM_000041.4
p.A156V
c.467C>T
1 paper
NM_000041.4
p.A156_S157delFs
c.468_469delCT
7 papers
NM_000041.4
p.R160_R163del0
c.480_488del9
2 papers
NM_000041.4
p.A156T
c.466G>A
1 paper
NM_000041.4
p.A156delFs
c.467delC
1 paper
NM_000041.4
p.L155L
c.465C>G
1 paper
NM_000041.4
p.L159V
c.475C>G
3 papers
NM_000041.4
p.L159L
c.475C>T
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