Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.L198fs

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.L198fs
c.592_593fs
Surrounding Variants
1 paper
NM_001371904.1
p.L198M
c.592C>A
1 paper
NM_001371904.1
p.L198P
c.593T>C
3 papers
NM_001371904.1
p.P193_L198delFs
c.579_592del14
1 paper
NM_001371904.1
p.S197I
c.590G>T
1 paper
NM_001371904.1
p.S197N
c.590G>A
2 papers
NM_001371904.1
p.S197G
c.589A>G
1 paper
NM_001371904.1
p.E196A
c.587A>C
1 paper
NM_001371904.1
p.E196insFs
c.586_587insC
2 papers
NM_001371904.1
p.S200S
c.600C>T
1 paper
NM_001371904.1
p.S200delFs
c.599delC
1 paper
NM_001371904.1
p.G201C
c.601G>T
1 paper
NM_001371904.1
p.Y194*
c.582C>G
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