Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Y54_L55delFs

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.Y54_L55delFs
c.160_164del5
Surrounding Variants
1 paper
NM_000041.4
p.D53A
c.158A>C
10 papers
NM_000041.4
p.D53G
c.158A>G
1 paper
NM_000041.4
p.D53H
c.157G>C
1 paper
NM_000041.4
p.D53_Y54del1
c.159_161delTTA
1 paper
NM_000041.4
p.Y54C
c.161A>G
1 paper
NM_000041.4
p.Y54F
c.161A>T
1 paper
NM_000041.4
p.W52_V58del0
c.156_173del18
1 paper
NM_000041.4
p.W52R
c.154T>A
6 papers
NM_000041.4
p.L55M
c.163C>A
3 papers
NM_000041.4
p.L55P
c.164T>C
1 paper
NM_000041.4
p.L55delFs
c.165delG
1 paper
NM_000041.4
p.L55L
c.165G>A
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