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

4 papers

NM_003560.4

p.Q756*

c.2266C>T

Surrounding Variants

1 paper

NM_003560.4

p.M752_G754del3

c.2254_2261del9

6 papers

NM_003560.4

p.G754V

c.2261G>T

1 paper

NM_003560.4

p.V753V

c.2259C>T

2 papers

NM_003560.4

p.V753F

c.2257G>T

1 paper

NM_003560.4

p.R759I

c.2276G>T

7 papers

NM_003560.4

p.R759Splc

c.2276+1G>A

8 papers

NM_003560.4

p.E751*

c.2251G>T

9 papers

NM_003560.4

p.E751K

c.2251G>A

2 papers

NM_003560.4

p.C750Y

c.2249G>A

1 paper

NM_003560.4

p.C750R

c.2248T>C

2 papers

NM_003560.4

p.R747Q

c.2240G>A

46 papers

NM_003560.4

p.R747W

c.2239C>T