Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.C130R

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
237 papers
NM_000041.4
p.C130R
c.388T>C
NM_001302688.2
p.C156R
c.466T>C
Surrounding Variants
1 paper
NM_000041.4
p.C130S
c.388T>A
1 paper
NM_000041.4
p.C130C
c.390C>T
4 papers
NM_000041.4
p.V129M
c.385G>A
1 paper
NM_000041.4
p.G131S
c.391G>A
1 paper
NM_000041.4
p.G131R
c.391G>C
1 paper
NM_000041.4
p.D128D
c.384C>T
1 paper
NM_000041.4
p.G131A
c.392G>C
1 paper
NM_000041.4
p.G131V
c.392G>T
4 papers
NM_000041.4
p.R132S
c.394C>A
7 papers
NM_000041.4
p.R132C
c.394C>T
NM_001302688.2
p.R158C
c.472C>T
2 papers
NM_000041.4
p.D128N
c.382G>A
2 papers
NM_000041.4
p.R132H
c.395G>A
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