Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.I44I

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
6 papers
NM_001371904.1
p.I44I
c.132C>A
Surrounding Variants
1 paper
NM_001371904.1
p.I44M
c.132C>G
6 papers
NM_001371904.1
p.I44T
c.131T>C
1 paper
NM_001371904.1
p.H45insFs
c.133dupC
1 paper
NM_001371904.1
p.H45delFs
c.133_134delTG
1 paper
NM_001371904.1
p.Q43insFs
c.128dupA
1 paper
NM_001371904.1
p.Q46fs
c.136_137fs
1 paper
NM_001371904.1
p.Q46H
c.138G>T
1 paper
NM_001371904.1
p.Q46delFs
c.138delC
1 paper
NM_001371904.1
p.E42V
c.125A>T
1 paper
NM_001371904.1
p.E42delFs
c.124delC
1 paper
NM_001371904.1
p.E42fs
c.124_125fs
1 paper
NM_001371904.1
p.V41E
c.122T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."