Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L144del1

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
2 papers
NM_000041.4
p.L144del1
c.430_431delCTC
Surrounding Variants
1 paper
NM_000041.4
p.L144I
c.430C>A
1 paper
NM_000041.4
p.L144V
c.430C>G
4 papers
NM_000041.4
p.L144F
c.430C>T
1 paper
NM_000041.4
p.M143T
c.428T>C
1 paper
NM_000041.4
p.L144H
c.431T>A
2 papers
NM_000041.4
p.L144P
c.431T>C
3 papers
NM_000041.4
p.L144R
c.431T>G
3 papers
NM_000041.4
p.G145_R154delFs
c.434_461del28
1 paper
NM_000041.4
p.A142V
c.425C>T
1 paper
NM_000041.4
p.M143_S147del5
c.427_440del15
2 papers
NM_000041.4
p.G145S
c.433G>A
2 papers
NM_000041.4
p.G145R
c.433G>C
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