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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G12A

PLA2G12A

21 papers

RefSeq Summary

Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such a...

Pfam Domains

PLA2G12aa 14–189UCSCGroup XII secretory phospholipase A2 precursor (PLA2G12)

Gene Aliases

HGNC Name

phospholipase A2 group XIIA

HGNC Previous Symbol

PLA2G12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 13 variants

5 papers

chr4:109717668 C>T

NM_030821.5

p.D111N

c.331G>A

PLA2G12

Exome: 0.6% (AC=8113, hom=31)Genome: 0.3% (AC=527, hom=4)111 overlapping SVs

2 papers

chr4:109717654 C>T

NM_030821.5

p.E115E

c.345G>A

PLA2G12

Exome: 41.2% (AC=601509, hom=127641)Genome: 31.2% (AC=47377, hom=9095)111 overlapping SVs

2 papers

chr4:109714415 C>T

NM_030821.5

p.A178T

c.532G>A

PLA2G12

Exome: 0.0% (AC=283, hom=2)Genome: 0.2% (AC=293, hom=0)109 overlapping SVs

1 paper

chr4:109729806 C>A

NM_030821.5

p.A2S

c.4G>T

exact variant not in gnomAD111 overlapping SVs

1 paper

chr4:109729785 G>A

NM_030821.5

p.L9F

c.25C>T

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=1, hom=0)110 overlapping SVs

1 paper

chr4:109729679 T>C

NM_030821.5

p.K44R

c.131A>G

PLA2G12

exact variant not in gnomAD110 overlapping SVs

1 paper

chr4:109718741 C>T

NM_030821.5

p.R76H

c.227G>A

PLA2G12

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)111 overlapping SVs

1 paper

chr4:109717659 A>G

NM_030821.5

p.Y114H

c.340T>C

PLA2G12

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=2, hom=0)111 overlapping SVs

1 paper

chr4:109717608 A>G

NM_030821.5

p.C131R

c.391T>C

PLA2G12

Exome: 0.1% (AC=1733, hom=1)Genome: 0.1% (AC=132, hom=0)111 overlapping SVs

1 paper

chr4:109714449 T>A

NM_030821.5

p.L166F

c.498A>T

PLA2G12

exact variant not in gnomAD109 overlapping SVs

1 paper

chr4:109714449 T>G

NM_030821.5

p.L166F

c.498A>C

PLA2G12

exact variant not in gnomAD109 overlapping SVs

1 paper

chr4:109714412 A>G

NM_030821.5

p.C179R

c.535T>C

PLA2G12

Exome: 0.0% (AC=2, hom=0)Genome: n/a109 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."