Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.S232F

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.S232F
c.695C>T
Surrounding Variants
2 papers
NM_001371904.1
p.S232C
c.695C>G
8 papers
NM_001371904.1
p.S232P
c.694T>C
1 paper
NM_001371904.1
p.S232T
c.694T>A
1 paper
NM_001371904.1
p.S232S
c.696C>G
4 papers
NM_001371904.1
p.R233W
c.697C>T
1 paper
NM_001371904.1
p.K234Q
c.700A>C
1 paper
NM_001371904.1
p.Q229L
c.686A>T
1 paper
NM_001371904.1
p.Q229*
c.685C>T
2 papers
NM_001371904.1
p.S232_L235del0
c.694_705del12
1 paper
NM_001371904.1
p.T236K
c.707C>A
1 paper
NM_001371904.1
p.V228L
c.682G>T
1 paper
NM_001371904.1
p.V228M
c.682G>A
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