Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R179C

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.R179C
c.535C>T
Surrounding Variants
1 paper
NM_001371904.1
p.R179H
c.536G>A
2 papers
NM_001371904.1
p.S178I
c.533G>T
1 paper
NM_001371904.1
p.V180L
c.538G>T
1 paper
NM_001371904.1
p.V180L
c.538G>C
1 paper
NM_001371904.1
p.V180G
c.539T>G
1 paper
NM_001371904.1
p.V180E
c.539T>A
1 paper
NM_001371904.1
p.V181M
c.541G>A
1 paper
NM_001371904.1
p.Q177K
c.529C>A
1 paper
NM_001371904.1
p.H182insFs
c.544_545ins5
1 paper
NM_001371904.1
p.G175A
c.524G>C
1 paper
NM_001371904.1
p.H182fs
c.544_545fs
2 papers
NM_001371904.1
p.G175R
c.523G>C
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