Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.V41E

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.V41E
c.122T>A
Surrounding Variants
1 paper
NM_001371904.1
p.G39_R40delFs
c.117_120del4
1 paper
NM_001371904.1
p.E42fs
c.124_125fs
2 papers
NM_001371904.1
p.R40M
c.119G>T
2 papers
NM_001371904.1
p.R40delFs
c.118delT
1 paper
NM_001371904.1
p.E42V
c.125A>T
1 paper
NM_001371904.1
p.E42delFs
c.124delC
1 paper
NM_001371904.1
p.R40fs
c.118_119fs
1 paper
NM_001371904.1
p.R40G
c.118A>G
1 paper
NM_001371904.1
p.Q43insFs
c.128dupA
6 papers
NM_001371904.1
p.I44T
c.131T>C
1 paper
NM_001371904.1
p.I44M
c.132C>G
6 papers
NM_001371904.1
p.I44I
c.132C>A
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