Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.E214A

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.E214A
c.641A>C
Surrounding Variants
1 paper
NM_005084.4
p.Q221P
c.662A>C
3 papers
NM_005084.4
p.Q221_V222Splc
c.663+1G>A
1 paper
NM_005084.4
p.Y205F
c.614A>T
1 paper
NM_005084.4
p.S202Y
c.605C>A
1 paper
NM_005084.4
p.D200E
c.600C>G
1 paper
NM_005084.4
p.D200H
c.598G>C
1 paper
NM_005084.4
p.G199W
c.595G>T
44 papers
NM_005084.4
p.I198T
c.593T>C
2 papers
NM_005084.4
p.K191N
c.573G>T
2 papers
NM_005084.4
p.K191N
c.573G>C
2 papers
NM_005084.4
p.T187S
c.560C>G
2 papers
NM_005084.4
p.T187S
c.559A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."