Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A210S

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
3 papers
NM_000041.4
p.A210S
c.628G>T
Surrounding Variants
2 papers
NM_000041.4
p.A210T
c.628G>A
8 papers
NM_000041.4
p.A210D
c.629C>A
1 paper
NM_000041.4
p.A210A
c.630C>A
1 paper
NM_000041.4
p.R209_A210insG
c.625_629ins3
1 paper
NM_000041.4
p.V208A
c.623T>C
1 paper
NM_000041.4
p.T212_S215delFs
c.636_645del10
2 papers
NM_000041.4
p.V208L
c.622G>C
2 papers
NM_000041.4
p.V208L
c.622G>T
1 paper
NM_000041.4
p.R207H
c.620G>A
1 paper
NM_000041.4
p.R207P
c.620G>C
1 paper
NM_000041.4
p.R207S
c.619C>A
2 papers
NM_000041.4
p.R207C
c.619C>T
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