Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R301C

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.R301C
c.901C>T
Surrounding Variants
1 paper
NM_001371904.1
p.R301G
c.901C>G
3 papers
NM_001371904.1
p.R301P
c.902G>C
2 papers
NM_001371904.1
p.R301delFs
c.901delG
1 paper
NM_001371904.1
p.A302T
c.904G>A
1 paper
NM_001371904.1
p.A302V
c.905C>T
1 paper
NM_001371904.1
p.A297A
c.891T>C
1 paper
NM_001371904.1
p.I296delFs
c.888delT
4 papers
NM_001371904.1
p.Q305*
c.913C>T
5 papers
NM_001371904.1
p.I296R
c.887T>G
1 paper
NM_001371904.1
p.I296fs
c.886_887fs
1 paper
NM_001371904.1
p.E306G
c.917A>G
14 papers
NM_001371904.1
p.Q295*
c.883C>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."