Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.M1_Q2delFs

PLA2G6

656 papers

RefSeq Summary

The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling...

Pfam Domains

Ankaa 151–184UCSCAnkyrin repeat
Ankaa 219–251UCSCAnkyrin repeat
Ankaa 286–315UCSCAnkyrin repeat
Ankaa 316–348UCSCAnkyrin repeat
Ankaa 349–381UCSCAnkyrin repeat
Patatinaa 481–665UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

phospholipase A2 group VI

HGNC Alias Symbols

iPLA2; PNPLA9; PARK14; iPLA2beta; NBIA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003560.4
p.M1_Q2delFs
c.1_5del5
Surrounding Variants
1 paper
NM_003560.4
p.F3L
c.7T>C
1 paper
NM_003560.4
p.Q2*
c.4C>T
8 papers
NM_003560.4
p.Q2K
c.4C>A
1 paper
NM_003560.4
p.M1del1
c.1_2delCAT
9 papers
NM_003560.4
p.M1I
c.3G>T
8 papers
NM_003560.4
p.M1I
c.3G>C
8 papers
NM_003560.4
p.M1I
c.3G>A
1 paper
NM_003560.4
p.F3L
c.9C>G
1 paper
NM_003560.4
p.F3insFs
c.7dupT
1 paper
NM_003560.4
p.F3L
c.9C>A
1 paper
NM_003560.4
p.F4Y
c.11T>A
23 papers
NM_003560.4
p.M1V
c.1A>G
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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."