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

18 papers

NM_003560.4

p.T661M

c.1982C>T

Surrounding Variants

2 papers

NM_003560.4

p.T661T

c.1983G>A

3 papers

NM_003560.4

p.L662V

c.1984C>G

1 paper

NM_003560.4

p.P660R

c.1979C>G

1 paper

NM_003560.4

p.P660S

c.1978C>T

2 papers

NM_003560.4

p.P660T

c.1978C>A

2 papers

NM_003560.4

p.N659K

c.1977C>G

2 papers

NM_003560.4

p.N659K

c.1977C>A

14 papers

NM_003560.4

p.N659S

c.1976A>G

1 paper

NM_003560.4

p.L662_D663del2

c.1984_1988del6

1 paper

NM_001004426.3

p.L601_D609del9

c.1801_1826del27

3 papers

NM_003560.4

p.N658K

c.1974C>G

8 papers

NM_003560.4

p.N658K

c.1974C>A