Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q283R

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.Q283R
c.848A>G
Surrounding Variants
1 paper
NM_001371904.1
p.Q283*
c.847C>T
1 paper
NM_001371904.1
p.R284*
c.850C>T
6 papers
NM_001371904.1
p.R282C
c.844C>T
6 papers
NM_001371904.1
p.R282S
c.844C>A
1 paper
NM_001371904.1
p.E280delFs
c.840delC
2 papers
NM_001371904.1
p.V281M
c.841G>A
1 paper
NM_001371904.1
p.E279delFs
c.835_836delTC
1 paper
NM_001371904.1
p.E279D
c.837G>T
1 paper
NM_001371904.1
p.E279D
c.837G>C
1 paper
NM_001371904.1
p.A287V
c.860C>T
1 paper
NM_001371904.1
p.S278C
c.833C>G
1 paper
NM_001371904.1
p.S278Y
c.833C>A
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