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.G42insFs

c.125dupG

Surrounding Variants

3 papers

NM_003560.4

p.Q43*

c.127C>T

1 paper

NM_003560.4

p.Q43R

c.128A>G

1 paper

NM_003560.4

p.G42E

c.125G>A

1 paper

NM_003560.4

p.G42R

c.124G>C

1 paper

NM_003560.4

p.G42R

c.124G>A

2 papers

NM_003560.4

p.L44L

c.130C>T

1 paper

NM_003560.4

p.L44insFs

c.132dupG

4 papers

NM_003560.4

p.R39L

c.116G>T

10 papers

NM_003560.4

p.R39Q

c.116G>A

1 paper

NM_003560.4

p.V38L

c.112G>C

2 papers

NM_003560.4

p.R37Q

c.110G>A

36 papers

NM_003560.4

p.R37*

c.109C>T