Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A120T

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
1 paper
NM_000041.4
p.A120T
c.358G>A
Surrounding Variants
2 papers
NM_000041.4
p.Q119P
c.356A>C
1 paper
NM_000041.4
p.Q119R
c.356A>G
2 papers
NM_000041.4
p.R121W
c.361C>T
1 paper
NM_001302688.2
p.Q145_D154delFs
c.434_461del28
1 paper
NM_000041.4
p.R121Q
c.362G>A
2 papers
NM_000041.4
p.A118G
c.353C>G
1 paper
NM_000041.4
p.L122M
c.364C>A
1 paper
NM_000041.4
p.A118P
c.352G>C
1 paper
NM_000041.4
p.L122P
c.365T>C
3 papers
NM_000041.4
p.A117V
c.350C>T
4 papers
NM_000041.4
p.A117T
c.349G>A
1 paper
NM_000041.4
p.G123G
c.369C>G
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