Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.S19*

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.S19*
c.56C>A
Surrounding Variants
4 papers
NM_001371904.1
p.S19L
c.56C>T
320 papers
NM_001371904.1
p.S19W
c.56C>G
1 paper
NM_001371904.1
p.A20fs
c.58_59fs
1 paper
NM_001371904.1
p.A20delFs
c.58delC
1 paper
NM_001371904.1
p.A17fs
c.49_50fs
3 papers
NM_001371904.1
p.A17Splc
c.50-1G>A
1 paper
NM_001371904.1
p.Q22*
c.64C>T
1 paper
NM_001371904.1
p.A17Splc
c.50-2A>G
1 paper
NM_001371904.1
p.Q22R
c.65A>G
1 paper
NM_001371904.1
p.A23T
c.67G>A
2 papers
NM_001371904.1
p.A23G
c.68C>G
1 paper
NM_001371904.1
p.A23delFs
c.68delG
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