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.E375fs

c.1123_1124fs

Surrounding Variants

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.V376fs

c.1126_1127fs

1 paper

NM_003560.4

p.A374A

c.1122A>C

1 paper

NM_003560.4

p.D377Y

c.1129G>T

1 paper

NM_003560.4

p.A374E

c.1121C>A

24 papers

NM_003560.4

p.G373R

c.1117G>C

28 papers

NM_003560.4

p.G373R

c.1117G>A

1 paper

NM_003560.4

p.P379L

c.1136C>T

1 paper

NM_003560.4

p.P379P

c.1137G>A

12 papers

NM_003560.4

p.V371M

c.1111G>A

1 paper

NM_003560.4

p.G383R

c.1147G>A