Varaico: Literature-Extracted Genetic Variants

Gene:APOA4
Variant:p.E100D

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.E100D
c.300G>C
Surrounding Variants
1 paper
NM_000482.4
p.E100D
c.300G>T
1 paper
NM_000482.4
p.K99R
c.296A>G
1 paper
NM_000482.4
p.L98R
c.293T>G
1 paper
NM_000482.4
p.G103W
c.307G>T
1 paper
NM_000482.4
p.L98M
c.292C>A
1 paper
NM_000482.4
p.K93_K97delins
c.278_289delinsCCGCCTCCT
1 paper
NM_000482.4
p.E96D
c.288G>T
1 paper
NM_000482.4
p.E96D
c.288G>C
1 paper
NM_000482.4
p.S95W
c.284C>G
1 paper
NM_000482.4
p.E107K
c.319G>A
1 paper
NM_000482.4
p.E107V
c.320A>T
1 paper
NM_000482.4
p.E107G
c.320A>G
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