Varaico: Literature-Extracted Genetic Variants

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.D31Y

c.91G>T

Surrounding Variants

6 papers

NM_003560.4

p.D31N

c.91G>A

1 paper

NM_003560.4

p.A30G

c.89C>G

1 paper

NM_003560.4

p.A30insFs

c.89_90ins8

1 paper

NM_003560.4

p.Y32H

c.94T>C

1 paper

NM_003560.4

p.Y32N

c.94T>A

8 papers

NM_003560.4

p.A30P

c.88G>C

1 paper

NM_003560.4

p.A30T

c.88G>A

7 papers

NM_003560.4

p.V29V

c.87G>A

1 paper

NM_003560.4

p.A28_V29insFs

c.84_85insGC

1 paper

NM_003560.4

p.T33I

c.98C>T

6 papers

NM_003560.4

p.S34L

c.101C>T

1 paper

NM_003560.4

p.V27A

c.80T>C