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.R53H

c.158G>A

Surrounding Variants

1 paper

NM_003560.4

p.R53C

c.157C>T

1 paper

NM_003560.4

p.N52S

c.155A>G

1 paper

NM_003560.4

p.N52fs

c.154_155fs

1 paper

NM_003560.4

p.T54_W55del1

c.161_163delAGG

1 paper

NM_003560.4

p.T50T

c.150T>G

1 paper

NM_003560.4

p.T50S

c.148A>T

1 paper

NM_003560.4

p.N49S

c.146A>G

7 papers

NM_003560.4

p.C57*

c.171C>A

1 paper

NM_003560.4

p.V58I

c.172G>A

1 paper

NM_003560.4

p.R53_V58del0

c.157_174del18

2 papers

NM_003560.4

p.V60L

c.178G>C

1 paper

NM_003560.4

p.N61K

c.183C>A