Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A47_L48del1

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
2 papers
NM_000041.4
p.A47_L48del1
c.141_143delACT
Surrounding Variants
1 paper
NM_000041.4
p.A47G
c.140C>G
4 papers
NM_000041.4
p.L48del1
c.142_144delCTG
1 paper
NM_000041.4
p.A47S
c.139G>T
1 paper
NM_000041.4
p.L48L
c.142C>T
1 paper
NM_000041.4
p.L48_G49delFs
c.143_147del5
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
1 paper
NM_000041.4
p.G49S
c.145G>A
1 paper
NM_000041.4
p.G49fs
c.145_146fs
1 paper
NM_000041.4
p.G49C
c.145G>T
1 paper
NM_000041.4
p.G49fs
c.145_146fs
2 papers
NM_000041.4
p.E45A
c.134A>C
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