Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V20G

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.V20G
c.59T>G
Surrounding Variants
1 paper
NM_000041.4
p.V20M
c.58G>A
1 paper
NM_000041.4
p.E21_T26del6
c.61_77del18
16 papers
NM_000041.4
p.E21K
c.61G>A
2 papers
NM_000041.4
p.K19K
c.57G>A
1 paper
NM_000041.4
p.E21Q
c.61G>C
2 papers
NM_000041.4
p.E21*
c.61G>T
2 papers
NM_000041.4
p.K19T
c.56A>C
2 papers
NM_000041.4
p.E21A
c.62A>C
1 paper
NM_000041.4
p.A18G
c.53C>G
10 papers
NM_000041.4
p.A18T
c.52G>A
1 paper
NM_000041.4
p.A18P
c.52G>C
1 paper
NM_000041.4
p.Q17_A18insFs
c.51_52ins31
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."