Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E45K

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.E45K
c.133G>A
Surrounding Variants
2 papers
NM_000041.4
p.E45A
c.134A>C
1 paper
NM_000041.4
p.E45G
c.134A>G
1 paper
NM_000041.4
p.E45V
c.134A>T
1 paper
NM_000041.4
p.E45delFs
c.133_134delGA
1 paper
NM_000041.4
p.W44*
c.131G>A
1 paper
NM_000041.4
p.W44R
c.130T>A
2 papers
NM_000041.4
p.W44R
c.130T>C
1 paper
NM_000041.4
p.W44G
c.130T>G
2 papers
NM_000041.4
p.R43R
c.129C>T
38 papers
NM_000041.4
p.L46P
c.137T>C
NM_001302688.2
p.L72P
c.215T>C
1 paper
NM_000041.4
p.A47_G49insFs
c.139_145dup7
2 papers
NM_000041.4
p.R43H
c.128G>A
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