Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.L302M

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.L302M
c.904C>A
Surrounding Variants
1 paper
NM_005084.4
p.L302L
c.904C>T
1 paper
NM_005084.4
p.P301_L302insFs
c.903_904insT
1 paper
NM_005084.4
p.G303C
c.907G>T
1 paper
NM_005084.4
p.G303S
c.907G>A
1 paper
NM_005084.4
p.I317V
c.949A>G
1 paper
NM_005084.4
p.I317insFs
c.949_950insT
6 papers
NM_005084.4
p.I317N
c.950T>A
1 paper
NM_005084.4
p.I317fs
c.949_950fs
1 paper
NM_005084.4
p.N327S
c.980A>G
1 paper
NM_005084.4
p.S336P
c.1006T>C
1 paper
NM_005084.4
p.E340insFs
c.1018_1019insT
1 paper
NM_005084.4
p.I344S
c.1031T>G
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