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

2 papers

NM_001004426.3

p.R691G

c.2071C>G

NM_003560.4

p.R745G

c.2233C>G

Surrounding Variants

11 papers

NM_003560.4

p.R745W

c.2233C>T

7 papers

NM_003560.4

p.R745P

c.2234G>C

2 papers

NM_003560.4

p.R745Q

c.2234G>A

1 paper

NM_001004426.3

p.D690_R691del1

c.2070_2072delCGG

1 paper

NM_003560.4

p.A746S

c.2236G>T

2 papers

NM_003560.4

p.A746T

c.2236G>A

46 papers

NM_003560.4

p.R747W

c.2239C>T

3 papers

NM_003560.4

p.R747G

c.2239C>G

2 papers

NM_003560.4

p.R747Q

c.2240G>A

62 papers

NM_003560.4

p.R741Q

c.2222G>A

NM_001004426.3

p.R687Q

c.2060G>A

1 paper

NM_003560.4

p.P738_G740delFs

c.2213_2220del8

21 papers

NM_001349869.2

p.R509W

c.1525C>T

NM_003560.4

p.R741W

c.2221C>T