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

1–12 of 827 variants

88 papers

NM_003560.4

p.D331Y

c.991G>T

62 papers

NM_003560.4

p.R741Q

c.2222G>A

46 papers

NM_003560.4

p.R747W

c.2239C>T

42 papers

NM_003560.4

p.R632W

c.1894C>T

42 papers

NM_003560.4

p.Y790*

c.2370T>G

36 papers

NM_003560.4

p.R37*

c.109C>T

35 papers

NM_003560.4

p.Y790*

c.2370T>A

28 papers

NM_003560.4

p.G373R

c.1117G>A

27 papers

NM_003560.4

p.A80T

c.238G>A

24 papers

NM_003560.4

p.S359S

c.1077G>A

24 papers

NM_003560.4

p.G373R

c.1117G>C

23 papers

NM_003560.4

p.M1V

c.1A>G