Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A225T

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.A225T
c.673G>A
Surrounding Variants
1 paper
NM_000041.4
p.A225V
c.674C>T
1 paper
NM_000041.4
p.A225_Q226Fs
c.675_676delinsGFs
5 papers
NM_000041.4
p.R224Q
c.671G>A
2 papers
NM_000041.4
p.R224P
c.671G>C
1 paper
NM_000041.4
p.R224L
c.671G>T
2 papers
NM_000041.4
p.R224G
c.670C>G
1 paper
NM_000041.4
p.A227_E230delFs
c.679_688del10
1 paper
NM_000041.4
p.E223A
c.668A>C
1 paper
NM_000041.4
p.E223K
c.667G>A
1 paper
NM_000041.4
p.E223Q
c.667G>C
1 paper
NM_000041.4
p.A227fs
c.679_680fs
2 papers
NM_000041.4
p.Q222H
c.666G>C
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