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.N16I

c.47A>T

Surrounding Variants

1 paper

NM_003560.4

p.T15T

c.45C>T

1 paper

NM_003560.4

p.G13A

c.38G>C

1 paper

NM_003560.4

p.S19F

c.56C>T

1 paper

NM_003560.4

p.S12N

c.35G>A

1 paper

NM_003560.4

p.N20N

c.60C>T

3 papers

NM_003560.4

p.T10fs

c.28_29fs

5 papers

NM_003560.4

p.T10insFs

c.28dupA

3 papers

NM_003560.4

p.T10fs

c.28_29fs

1 paper

NM_003560.4

p.N9insFs

c.27dupT

4 papers

NM_003560.4

p.N9_T10insFs

c.27_28insA

10 papers

NM_003560.4

p.R23Q

c.68G>A

1 paper

NM_003560.4

p.N9S

c.26A>G