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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.N281S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:116821216 T>C

NM_000482.4

p.N281S

c.842A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821219 C>T

NM_000482.4

p.G280D

c.839G>A

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr11:116821222 C>T

NM_000482.4

p.R279K

c.836G>A

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821226 G>A

NM_000482.4

p.L278L

c.832C>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821226 G>T

NM_000482.4

p.L278M

c.832C>A

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:116821201 T>G

NM_000482.4

p.Q286P

c.857A>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

2 papers

chr11:116821235 G>A

NM_000482.4

p.R275C

c.823C>T

Apolipoprotein

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

1 paper

chr11:116821237 A>C

NM_000482.4

p.V274G

c.821T>G

Apolipoprotein

Exome: n/aGenome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821237 A>G

NM_000482.4

p.V274A

c.821T>C

Apolipoprotein

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:116821195 G>A

NM_000482.4

p.S288L

c.863C>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821239 G>A

NM_000482.4

p.D273D

c.819C>T

Apolipoprotein

Exome: 0.0% (AC=634, hom=6)Genome: 0.0% (AC=37, hom=1)19 overlapping SVs

1 paper

chr11:116821240 T>C

NM_000482.4

p.D273G

c.818A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821244 C>T

NM_000482.4

p.E272K

c.814G>A

Apolipoprotein

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=10, hom=0)19 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."