Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.L224H

APOA5

641 papers

RefSeq Summary

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of h...

Pfam Domains

Apolipoproteinaa 59–262UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 265–358UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A5

HGNC Alias Symbols

RAP3; APOA-V

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371904.1
p.L224H
c.671T>A
Surrounding Variants
4 papers
NM_001371904.1
p.R223C
c.667C>T
1 paper
NM_001371904.1
p.R226C
c.676C>T
1 paper
NM_001371904.1
p.S225_R226Fs
c.675_676delinsGFs
2 papers
NM_001371904.1
p.A222V
c.665C>T
1 paper
NM_001371904.1
p.C227R
c.679T>C
1 paper
NM_001371904.1
p.V228L
c.682G>T
1 paper
NM_001371904.1
p.V228M
c.682G>A
2 papers
NM_001371904.1
p.S220I
c.659G>T
1 paper
NM_001371904.1
p.S220T
c.659G>C
1 paper
NM_001371904.1
p.Q229*
c.685C>T
1 paper
NM_001371904.1
p.A219V
c.656C>T
1 paper
NM_001371904.1
p.Q229L
c.686A>T
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