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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G7

PLA2G7

255 papers

RefSeq Summary

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activ...

Pfam Domains

PAF-AH_p_IIaa 48–416UCSCPlatelet-activating factor acetylhydrolase, isoform II

Gene Aliases

HGNC Name

phospholipase A2 group VII

HGNC Alias Symbols

LDL-PLA2; Lp-PLA2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 117 variants

84 papers

chr6:46709361 C>A

NM_005084.4

p.V279F

c.835G>T

PAF-AH_p_II

Exome: 0.4% (AC=5270, hom=378)Genome: 0.3% (AC=406, hom=21)59 overlapping SVs

44 papers

chr6:46711566 A>G

NM_005084.4

p.I198T

c.593T>C

PAF-AH_p_II

Exome: 5.9% (AC=86253, hom=3637)Genome: 10.0% (AC=15138, hom=1216)58 overlapping SVs

41 papers

chr6:46716485 C>T

NM_005084.4

p.R92H

c.275G>A

PAF-AH_p_II

Exome: 27.6% (AC=402482, hom=59025)Genome: 28.3% (AC=43002, hom=6251)59 overlapping SVs

24 papers

chr6:46705206 A>G

NM_005084.4

p.V379A

c.1136T>C

PAF-AH_p_II

Exome: 80.6% (AC=1172329, hom=473060)Genome: 79.1% (AC=120284, hom=47651)57 overlapping SVs

11 papers

chr6:46709354 T>C

NM_005084.4

p.Q281R

c.842A>G

PAF-AH_p_II

Exome: 0.0% (AC=139, hom=0)Genome: 0.0% (AC=9, hom=0)59 overlapping SVs

6 papers

chr6:46708081 A>T

NM_005084.4

p.I317N

c.950T>A

PAF-AH_p_II

Exome: 0.0% (AC=133, hom=1)Genome: 0.0% (AC=15, hom=0)58 overlapping SVs

5 papers

chr6:46709337 G>A

NM_005084.4

p.Q287*

c.859C>T

PAF-AH_p_II

Exome: 0.0% (AC=362, hom=0)Genome: 0.0% (AC=20, hom=0)59 overlapping SVs

4 papers

chr6:46717055 A>T

NM_005084.4

p.F51I

c.151T>A

PAF-AH_p_II

Exome: 0.2% (AC=2536, hom=2)Genome: 0.1% (AC=208, hom=1)58 overlapping SVs

4 papers

chr6:46712303 A>G

NM_005084.4

p.S169P

c.505T>C

PAF-AH_p_II

exact variant not in gnomAD58 overlapping SVs

4 papers

chr6:46705176 A>G

NM_005084.4

p.L389S

c.1166T>C

PAF-AH_p_II

Exome: 0.0% (AC=532, hom=3)Genome: 0.4% (AC=549, hom=4)57 overlapping SVs

3 papers

chr6:46722889 C>A

NM_005084.4

p.M1I

c.3G>T

exact variant not in gnomAD58 overlapping SVs

3 papers

chr6:46711495 C>T

NM_005084.4

p.Q221_V222Splc

c.663+1G>A

PAF-AH_p_II

Exome: 0.0% (AC=610, hom=8)Genome: 0.0% (AC=45, hom=0)58 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."