Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G7
Variant:p.V279F

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
84 papers
NM_005084.4
p.V279F
c.835G>T
Surrounding Variants
2 papers
NM_005084.4
p.T278M
c.833C>T
1 paper
NM_005084.4
p.T278A
c.832A>G
1 paper
NM_005084.4
p.A277G
c.830C>G
11 papers
NM_005084.4
p.Q281R
c.842A>G
1 paper
NM_005084.4
p.L283P
c.848T>C
1 paper
NM_005084.4
p.S273A
c.817T>G
5 papers
NM_005084.4
p.Q287*
c.859C>T
1 paper
NM_005084.4
p.Q287H
c.861G>T
1 paper
NM_005084.4
p.Q287H
c.861G>C
1 paper
NM_005084.4
p.K252N
c.756G>C
1 paper
NM_005084.4
p.D250_L251del0
c.748_753del6
1 paper
NM_005084.4
p.L249_D250ins1
c.747_748insTTA
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."