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.G383R

c.1147G>A

Surrounding Variants

1 paper

NM_003560.4

p.E384V

c.1151A>T

1 paper

NM_003560.4

p.P379P

c.1137G>A

1 paper

NM_003560.4

p.P386_T387insFs

c.1158_1159ins4

1 paper

NM_003560.4

p.P379L

c.1136C>T

1 paper

NM_003560.4

p.T387fs

c.1159_1160fs

1 paper

NM_003560.4

p.D377Y

c.1129G>T

1 paper

NM_003560.4

p.V376_F388del13

c.1126_1163del39

1 paper

NM_003560.4

p.V376fs

c.1126_1127fs

2 papers

NM_003560.4

p.V376fs

c.1126_1127fs

8 papers

NM_003560.4

p.E375delFs

c.1125delT

1 paper

NM_003560.4

p.E375fs

c.1123_1124fs

1 paper

NM_003560.4

p.A374A

c.1122A>C