Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V58V

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
11 papers
NM_000041.4
p.V58V
c.174G>C
Surrounding Variants
2 papers
NM_000041.4
p.Q59*
c.175C>T
3 papers
NM_000041.4
p.V58_Q64del0
c.174_191del18
1 paper
NM_000041.4
p.Q59P
c.176A>C
1 paper
NM_000041.4
p.T60P
c.178A>C
8 papers
NM_000041.4
p.T60A
c.178A>G
1 paper
NM_000041.4
p.T60S
c.178A>T
2 papers
NM_000041.4
p.S62_E63delFs
c.184_187del4
1 paper
NM_000041.4
p.R56H
c.167G>A
1 paper
NM_000041.4
p.L55L
c.165G>A
3 papers
NM_000041.4
p.L55L
c.165G>C
1 paper
NM_000041.4
p.L55L
c.165G>T
3 papers
NM_000041.4
p.L55P
c.164T>C
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