Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.N433T

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005084.4
p.N433T
c.1298A>C
Surrounding Variants
1 paper
NM_005084.4
p.E414D
c.1242G>T
1 paper
NM_005084.4
p.E414D
c.1242G>C
4 papers
NM_005084.4
p.L389S
c.1166T>C
24 papers
NM_005084.4
p.V379A
c.1136T>C
1 paper
NM_005084.4
p.V379E
c.1136T>A
1 paper
NM_005084.4
p.M368K
c.1103T>A
1 paper
NM_005084.4
p.H367N
c.1099C>A
1 paper
NM_005084.4
p.A360V
c.1079C>T
1 paper
NM_005084.4
p.F357C
c.1070T>G
1 paper
NM_005084.4
p.R347K
c.1040G>A
1 paper
NM_005084.4
p.I344S
c.1031T>G
1 paper
NM_005084.4
p.E340insFs
c.1018_1019insT
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