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

2 papers

NM_003560.4

p.H339Q

c.1017C>G

Surrounding Variants

2 papers

NM_003560.4

p.H339Q

c.1017C>A

6 papers

NM_003560.4

p.G340R

c.1018G>C

6 papers

NM_003560.4

p.G340R

c.1018G>A

19 papers

NM_003560.4

p.A341T

c.1021G>A

1 paper

NM_003560.4

p.A341D

c.1022C>A

1 paper

NM_003560.4

p.L337Q

c.1010T>A

1 paper

NM_003560.4

p.G340_A341delFs

c.1020_1023del4

1 paper

NM_003560.4

p.L336delFs

c.1007_1008delCA

1 paper

NM_003560.4

p.G340_N342delFs

c.1019_1025del7

11 papers

NM_003560.4

p.A343T

c.1027G>A

2 papers

NM_003560.4

p.A343V

c.1028C>T

1 paper

NM_003560.4

p.D344delFs

c.1030delC