Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q148*

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
32 papers
NM_001371904.1
p.Q148*
c.442C>T
Surrounding Variants
2 papers
NM_001371904.1
p.L147_Q148delFs
c.440_443del4
2 papers
NM_001371904.1
p.E149fs
c.445_446fs
1 paper
NM_001371904.1
p.E149A
c.446A>C
1 paper
NM_001371904.1
p.E149D
c.447G>C
1 paper
NM_001371904.1
p.E149Fs
c.447delinsCTCFs
3 papers
NM_001371904.1
p.E146K
c.436G>A
4 papers
NM_001371904.1
p.Q145R
c.434A>G
2 papers
NM_001371904.1
p.E149_Q150delFs
c.447_450del4
12 papers
NM_001371904.1
p.Q145*
c.433C>T
1 paper
NM_001371904.1
p.E138_R143delFs
c.413_429del17
2 papers
NM_001371904.1
p.T133_R143del11
c.397_428del33
1 paper
NM_001371904.1
p.R152C
c.454C>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."