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.L74insFs

c.221dupT

Surrounding Variants

1 paper

NM_003560.4

p.L74L

c.222G>A

1 paper

NM_003560.4

p.E75*

c.223G>T

1 paper

NM_003560.4

p.Q73R

c.218A>G

1 paper

NM_003560.4

p.Q73insFs

c.217dupC

2 papers

NM_003560.4

p.Q73*

c.217C>T

16 papers

NM_003560.4

p.F72L

c.216C>G

18 papers

NM_003560.4

p.F72L

c.216C>A

16 papers

NM_003560.4

p.F72L

c.214T>C

1 paper

NM_003560.4

p.L76_E77delFs

c.228_229delCC

1 paper

NM_003560.4

p.A78S

c.232G>T

1 paper

NM_003560.4

p.A78T

c.232G>A

3 papers

NM_003560.4

p.R70Q

c.209G>A