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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.H339R

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

chr11:116821042 T>C

NM_000482.4

p.H339R

c.1016A>G

Apolipoprotein

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

Surrounding Variants

1 paper

chr11:116821036 C>T

NM_000482.4

p.S341N

c.1022G>A

Apolipoprotein

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821048 T>C

NM_000482.4

p.E337G

c.1010A>G

Apolipoprotein

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

1 paper

chr11:116821049 C>T

NM_000482.4

p.E337K

c.1009G>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821052 C>A

NM_000482.4

p.V336L

c.1006G>T

Apolipoprotein

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

1 paper

chr11:116821052 C>G

NM_000482.4

p.V336L

c.1006G>C

Apolipoprotein

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

3 papers

chr11:116821052 C>T

NM_000482.4

p.V336M

c.1006G>A

Apolipoprotein

Exome: 0.1% (AC=1980, hom=3)Genome: 0.1% (AC=122, hom=1)19 overlapping SVs

1 paper

chr11:116821055 C>G

NM_000482.4

p.D335H

c.1003G>C

Apolipoprotein

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr11:116821028 C>T

NM_000482.4

p.E344K

c.1030G>A

Apolipoprotein

Exome: 0.0% (AC=16, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821060 G>A

NM_000482.4

p.A333V

c.998C>T

Apolipoprotein

Exome: 0.0% (AC=99, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr11:116821060 G>T

NM_000482.4

p.A333E

c.998C>A

Apolipoprotein

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

1 paper

chr11:116821066 G>A

NM_000482.4

p.P331L

c.992C>T

Apolipoprotein

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

1 paper

chr11:116821066 G>C

NM_000482.4

p.P331R

c.992C>G

Apolipoprotein

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

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