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.K678_G679Splc

c.2034+1G>T

Surrounding Variants

5 papers

NM_003560.4

p.K678E

c.2032A>G

2 papers

NM_003560.4

p.K678Q

c.2032A>C

4 papers

NM_003560.4

p.R677L

c.2030G>T

1 paper

NM_003560.4

p.R677H

c.2030G>A

2 papers

NM_003560.4

p.R677C

c.2029C>T

1 paper

NM_003560.4

p.Q673*

c.2017C>T

2 papers

NM_003560.4

p.N672I

c.2015A>T

1 paper

NM_003560.4

p.E670G

c.2009A>G

3 papers

NM_003560.4

p.T666I

c.1997C>T

1 paper

NM_003560.4

p.L662_D663del2

c.1984_1988del6

1 paper

NM_001004426.3

p.L601_D609del9

c.1801_1826del27

3 papers

NM_003560.4

p.L662V

c.1984C>G