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

7 papers

NM_003560.4

p.S774I

c.2321G>T

Surrounding Variants

1 paper

NM_003560.4

p.V773F

c.2317G>T

3 papers

NM_003560.4

p.D771N

c.2311G>A

7 papers

NM_003560.4

p.N780S

c.2339A>G

3 papers

NM_003560.4

p.N780N

c.2340C>T

14 papers

NM_003560.4

p.A781T

c.2341G>A

2 papers

NM_003560.4

p.W783*

c.2348G>A

2 papers

NM_003560.4

p.W783*

c.2349G>A

3 papers

NM_003560.4

p.T785T

c.2355C>T

3 papers

NM_003560.4

p.Q763*

c.2287C>T

2 papers

NM_003560.4

p.E786K

c.2356G>A

5 papers

NM_003560.4

p.E786fs

c.2356_2357fs

1 paper

NM_003560.4

p.E786fs

c.2356_2357fs