Varaico: Literature-Extracted Genetic Variants

Gene:APOA4
Variant:p.K247E

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.K247E
c.739A>G
Surrounding Variants
1 paper
NM_000482.4
p.K246R
c.737A>G
1 paper
NM_000482.4
p.M245I
c.735G>T
1 paper
NM_000482.4
p.M245I
c.735G>C
1 paper
NM_000482.4
p.M245I
c.735G>A
1 paper
NM_000482.4
p.A249P
c.745G>C
1 paper
NM_000482.4
p.A249T
c.745G>A
1 paper
NM_000482.4
p.M245V
c.733A>G
4 papers
NM_000482.4
p.E250K
c.748G>A
1 paper
NM_000482.4
p.F243L
c.729C>G
1 paper
NM_000482.4
p.F243L
c.729C>A
1 paper
NM_000482.4
p.F243L
c.727T>C
1 paper
NM_000482.4
p.T242A
c.724A>G
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