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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.E196D

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

chr11:116821470 C>A

NM_000482.4

p.E196D

c.588G>T

Apolipoprotein

Exome: 0.0% (AC=23, hom=0)Genome: n/a19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821470 C>G

NM_000482.4

p.E196D

c.588G>C

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821474 T>G

NM_000482.4

p.E195A

c.584A>C

Apolipoprotein

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

1 paper

chr11:116821464 C>A

NM_000482.4

p.K198N

c.594G>T

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821464 C>G

NM_000482.4

p.K198N

c.594G>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821478 C>A

NM_000482.4

p.V194L

c.580G>T

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821478 C>G

NM_000482.4

p.V194L

c.580G>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

2 papers

chr11:116821478 C>T

NM_000482.4

p.V194M

c.580G>A

Apolipoprotein

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=13, hom=0)19 overlapping SVs

1 paper

chr11:116821479 G>C

NM_000482.4

p.N193K

c.579C>G

Apolipoprotein

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

1 paper

chr11:116821460 G>A

NM_000482.4

p.R200C

c.598C>T

Apolipoprotein

Exome: 0.0% (AC=268, hom=0)Genome: 0.0% (AC=20, hom=0)19 overlapping SVs

1 paper

chr11:116821459 C>G

NM_000482.4

p.R200P

c.599G>C

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821459 C>T

NM_000482.4

p.R200H

c.599G>A

Apolipoprotein

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

2 papers

chr11:116821483 T>C

NM_000482.4

p.Q192R

c.575A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

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