Varaico: Literature-Extracted Genetic Variants

Gene:APOA4
Variant:p.S52C

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
1 paper
NM_000482.4
p.S52C
c.155C>G
Surrounding Variants
1 paper
NM_000482.4
p.K51E
c.151A>G
1 paper
NM_000482.4
p.Q50R
c.149A>G
1 paper
NM_000482.4
p.Q50*
c.148C>T
1 paper
NM_000482.4
p.Q50E
c.148C>G
1 paper
NM_000482.4
p.Q50K
c.148C>A
1 paper
NM_000482.4
p.H48L
c.143A>T
1 paper
NM_000482.4
p.Q56R
c.167A>G
1 paper
NM_000482.4
p.E47K
c.139G>A
1 paper
NM_000482.4
p.L58_N59insG
c.172_176ins3
1 paper
NM_000482.4
p.L58R
c.173T>G
1 paper
NM_000482.4
p.V46A
c.137T>C
1 paper
NM_000482.4
p.V46L
c.136G>T
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