Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q42H

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.Q42H
c.126G>T
Surrounding Variants
1 paper
NM_000041.4
p.Q42H
c.126G>C
1 paper
NM_000041.4
p.R43insFs
c.127dupC
1 paper
NM_000041.4
p.R43_L48del0
c.128_142del15
30 papers
NM_000041.4
p.R43C
c.127C>T
NM_001302688.2
p.R69C
c.205C>T
2 papers
NM_000041.4
p.R43H
c.128G>A
1 paper
NM_000041.4
p.G41G
c.123C>G
2 papers
NM_000041.4
p.R43R
c.129C>T
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
4 papers
NM_000041.4
p.G41S
c.121G>A
1 paper
NM_000041.4
p.W44*
c.131G>A
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