Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q252*

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.Q252*
c.754C>T
Surrounding Variants
3 papers
NM_001371904.1
p.Q252H
c.756G>T
3 papers
NM_001371904.1
p.Q252H
c.756G>C
6 papers
NM_001371904.1
p.D251Y
c.751G>T
3 papers
NM_001371904.1
p.D251N
c.751G>A
11 papers
NM_001371904.1
p.L253P
c.758T>C
1 paper
NM_001371904.1
p.R254C
c.760C>T
1 paper
NM_001371904.1
p.L250M
c.748C>A
1 paper
NM_001371904.1
p.N249K
c.747C>G
1 paper
NM_001371904.1
p.N249K
c.747C>A
3 papers
NM_001371904.1
p.E255K
c.763G>A
2 papers
NM_001371904.1
p.Q248Q
c.744G>A
9 papers
NM_001371904.1
p.E255G
c.764A>G
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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."