Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.F51I

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
4 papers
NM_005084.4
p.F51I
c.151T>A
Surrounding Variants
1 paper
NM_005084.4
p.G52A
c.155G>C
1 paper
NM_005084.4
p.Q53H
c.159A>T
1 paper
NM_005084.4
p.T54_K55insFs
c.162_163insA
1 paper
NM_005084.4
p.K55E
c.163A>G
1 paper
NM_005084.4
p.I56delFs
c.166delT
1 paper
NM_005084.4
p.L45P
c.134T>C
1 paper
NM_005084.4
p.I56I
c.168C>T
1 paper
NM_005084.4
p.V44L
c.130G>T
1 paper
NM_005084.4
p.V44L
c.130G>C
1 paper
NM_005084.4
p.P62S
c.184C>T
2 papers
NM_005084.4
p.Y63_S64insFs
c.189_190insA
1 paper
NM_005084.4
p.S64P
c.190T>C
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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."