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

15 papers

NM_003560.4

p.V310E

c.929T>A

Surrounding Variants

1 paper

NM_003560.4

p.V310M

c.928G>A

1 paper

NM_003560.4

p.G307delFs

c.921delG

1 paper

NM_003560.4

p.R306W

c.916C>T

1 paper

NM_003560.4

p.S312_T313del2

c.934_938del6

1 paper

NM_003560.4

p.L304delFs

c.912delC

1 paper

NM_003560.4

p.A316insFs

c.947dupC

1 paper

NM_003560.4

p.S315_A316ins0

c.945_947dupCGC

2 papers

NM_003560.4

p.L303Q

c.908T>A

2 papers

NM_003560.4

p.G317V

c.950G>T

2 papers

NM_003560.4

p.M302R

c.905T>G

1 paper

NM_003560.4

p.S315_N318delFs

c.944_953del10

1 paper

NM_003560.4

p.R301P

c.902G>C