Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.A37Splc

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
2 papers
NM_005084.4
p.A37Splc
c.109+2T>C
Surrounding Variants
1 paper
NM_005084.4
p.K34Q
c.100A>C
1 paper
NM_005084.4
p.N28Y
c.82A>T
1 paper
NM_005084.4
p.F22delFs
c.66delA
1 paper
NM_005084.4
p.F22fs
c.64_65fs
1 paper
NM_005084.4
p.L16_V18del3
c.46_53del9
1 paper
NM_005084.4
p.A17V
c.50C>T
1 paper
NM_005084.4
p.C15R
c.43T>C
1 paper
NM_005084.4
p.C13W
c.39C>G
1 paper
NM_005084.4
p.H7Y
c.19C>T
1 paper
NM_005084.4
p.L6del1
c.16_18delCAA
1 paper
NM_005084.4
p.V2L
c.4G>T
3 papers
NM_005084.4
p.M1I
c.3G>T
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