Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q64L

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.Q64L
c.191A>T
Surrounding Variants
1 paper
NM_000041.4
p.Q64delFs
c.192delG
1 paper
NM_000041.4
p.Q64E
c.190C>G
1 paper
NM_000041.4
p.Q64Q
c.192G>A
7 papers
NM_000041.4
p.Q64H
c.192G>C
6 papers
NM_000041.4
p.Q64H
c.192G>T
3 papers
NM_000041.4
p.V65E
c.194T>A
1 paper
NM_000041.4
p.E63K
c.187G>A
1 paper
NM_000041.4
p.E63fs
c.187_188fs
1 paper
NM_000041.4
p.E67K
c.199G>A
2 papers
NM_000041.4
p.E68delFs
c.202delG
2 papers
NM_000041.4
p.S62_E63delFs
c.184_187del4
1 paper
NM_000041.4
p.E68K
c.202G>A
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