Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.F324L

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.F324L
c.970T>C
Surrounding Variants
1 paper
NM_001371904.1
p.A323V
c.968C>T
2 papers
NM_001371904.1
p.F324L
c.972C>G
2 papers
NM_001371904.1
p.F324L
c.972C>A
1 paper
NM_001371904.1
p.A323_F324ins10
c.967_971ins30
2 papers
NM_001371904.1
p.P326_E327insC
c.976_980ins3
11 papers
NM_001371904.1
p.H321L
c.962A>T
1 paper
NM_001371904.1
p.E327Q
c.979G>C
2 papers
NM_001371904.1
p.E327fs
c.979_980fs
2 papers
NM_001371904.1
p.E327delFs
c.980_981delCT
1 paper
NM_001371904.1
p.F328S
c.983T>C
1 paper
NM_001371904.1
p.E327_F328del1
c.980_982delACT
5 papers
NM_001371904.1
p.P319L
c.956C>T
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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."