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

16 papers

NM_003560.4

p.L354P

c.1061T>C

Surrounding Variants

1 paper

NM_003560.4

p.H355Y

c.1063C>T

9 papers

NM_003560.4

p.P353L

c.1058C>T

1 paper

NM_003560.4

p.T352_P353delins

c.1054_1058delinsCTGGCCAGGAG

1 paper

NM_003560.4

p.T352I

c.1055C>T

1 paper

NM_003560.4

p.A357P

c.1069G>C

2 papers

NM_003560.4

p.A357T

c.1069G>A

2 papers

NM_003560.4

p.M358fs

c.1072_1073fs

1 paper

NM_003560.4

p.G350S

c.1048G>A

2 papers

NM_003560.4

p.H349P

c.1046A>C

1 paper

NM_003560.4

p.S359S

c.1077G>C

24 papers

NM_003560.4

p.S359S

c.1077G>A

1 paper

NM_003560.4

p.G347delFs

c.1040_1041delTC