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

36 papers

NM_003560.4

p.R37*

c.109C>T

Surrounding Variants

2 papers

NM_003560.4

p.R37Q

c.110G>A

1 paper

NM_003560.4

p.V38L

c.112G>C

1 paper

NM_003560.4

p.S35I

c.104G>T

1 paper

NM_003560.4

p.S35N

c.104G>A

4 papers

NM_003560.4

p.R39L

c.116G>T

10 papers

NM_003560.4

p.R39Q

c.116G>A

6 papers

NM_003560.4

p.S34L

c.101C>T

1 paper

NM_003560.4

p.T33I

c.98C>T

1 paper

NM_003560.4

p.Y32H

c.94T>C

1 paper

NM_003560.4

p.Y32N

c.94T>A

1 paper

NM_003560.4

p.G42R

c.124G>C

1 paper

NM_003560.4

p.G42R

c.124G>A