Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.A222V

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
2 papers
NM_001371904.1
p.A222V
c.665C>T
Surrounding Variants
4 papers
NM_001371904.1
p.R223C
c.667C>T
1 paper
NM_001371904.1
p.L224H
c.671T>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.A219V
c.656C>T
1 paper
NM_001371904.1
p.P218insFs
c.653_654dupCC
2 papers
NM_001371904.1
p.A219P
c.655G>C
2 papers
NM_001371904.1
p.P218delFs
c.654delG
1 paper
NM_001371904.1
p.A219fs
c.655_656fs
1 paper
NM_001371904.1
p.R226C
c.676C>T
1 paper
NM_001371904.1
p.S225_R226Fs
c.675_676delinsGFs
1 paper
NM_001371904.1
p.C227R
c.679T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."