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

88 papers

NM_003560.4

p.D331Y

c.991G>T

Surrounding Variants

8 papers

NM_003560.4

p.D331N

c.991G>A

1 paper

NM_003560.4

p.C332S

c.994T>A

1 paper

NM_003560.4

p.C332S

c.995G>C

4 papers

NM_003560.4

p.R329H

c.986G>A

8 papers

NM_003560.4

p.R329C

c.985C>T

1 paper

NM_003560.4

p.R327C

c.979C>T

1 paper

NM_003560.4

p.M326T

c.977T>C

1 paper

NM_003560.4

p.A324delFs

c.970_971delGC

1 paper

NM_003560.4

p.L336delFs

c.1007_1008delCA

1 paper

NM_003560.4

p.L337Q

c.1010T>A

2 papers

NM_003560.4

p.A324A

c.972G>A

1 paper

NM_003560.4

p.A324T

c.970G>A