Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L96L

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.L96L
c.288G>A
Surrounding Variants
1 paper
NM_000041.4
p.L96L
c.288G>C
1 paper
NM_000041.4
p.L96L
c.288G>T
4 papers
NM_000041.4
p.E97fs
c.289_290fs
1 paper
NM_001302688.2
p.L122P
c.365T>C
6 papers
NM_000041.4
p.E97delFs
c.291delG
3 papers
NM_000041.4
p.E97D
c.291G>T
1 paper
NM_000041.4
p.E98*
c.292G>T
1 paper
NM_000041.4
p.E98A
c.293A>C
5 papers
NM_000041.4
p.Q99K
c.295C>A
1 paper
NM_000041.4
p.S94W
c.281C>G
1 paper
NM_000041.4
p.S94L
c.281C>T
2 papers
NM_000041.4
p.Q99R
c.296A>G
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