Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.G78G

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.G78G
c.234C>A
Surrounding Variants
1 paper
NM_005084.4
p.G78V
c.233G>T
1 paper
NM_005084.4
p.G78D
c.233G>A
1 paper
NM_005084.4
p.R82C
c.244C>T
2 papers
NM_005084.4
p.R82H
c.245G>A
41 papers
NM_005084.4
p.R92H
c.275G>A
1 paper
NM_005084.4
p.L93H
c.278T>A
1 paper
NM_005084.4
p.D94E
c.282C>A
1 paper
NM_005084.4
p.K101insFs
c.301_302insCG
1 paper
NM_005084.4
p.Y103C
c.308A>G
1 paper
NM_005084.4
p.S108C
c.322A>T
1 paper
NM_005084.4
p.F110S
c.329T>C
1 paper
NM_005084.4
p.G126C
c.376G>T
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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."