Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q34H

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.Q34H
c.102G>C
Surrounding Variants
1 paper
NM_000041.4
p.Q34H
c.102G>T
1 paper
NM_000041.4
p.Q35L
c.104A>T
1 paper
NM_001302688.2
p.T62_E63delFs
c.184_187del4
1 paper
NM_000041.4
p.Q34K
c.100C>A
1 paper
NM_000041.4
p.Q34E
c.100C>G
1 paper
NM_000041.4
p.Q34*
c.100C>T
2 papers
NM_000041.4
p.Q35Q
c.105G>A
1 paper
NM_000041.4
p.Q35H
c.105G>T
1 paper
NM_000041.4
p.T36S
c.106A>T
1 paper
NM_000041.4
p.R33H
c.98G>A
1 paper
NM_000041.4
p.R33L
c.98G>T
4 papers
NM_000041.4
p.R33C
c.97C>T
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