Varaico: Literature-Extracted Genetic Variants

Gene:APOA4
Variant:p.S178L

APOA4

219 papers

RefSeq Summary

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue pr...

Pfam Domains

Apolipoproteinaa 61–250UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 244–393UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A4

HGNC Previous Name

apolipoprotein A-IV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000482.4
p.S178L
c.533C>T
Surrounding Variants
1 paper
NM_000482.4
p.A177V
c.530C>T
1 paper
NM_000482.4
p.L179L
c.537G>A
1 paper
NM_000482.4
p.Q176*
c.526C>T
1 paper
NM_000482.4
p.P181T
c.541C>A
1 paper
NM_000482.4
p.P181L
c.542C>T
1 paper
NM_000482.4
p.P181H
c.542C>A
1 paper
NM_000482.4
p.H182insFs
c.544_545ins5
1 paper
NM_000482.4
p.H182fs
c.544_545fs
1 paper
NM_000482.4
p.A183P
c.547G>C
1 paper
NM_000482.4
p.A183T
c.547G>A
1 paper
NM_000482.4
p.D173N
c.517G>A
1 paper
NM_000482.4
p.D184Y
c.550G>T
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