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.R759I

c.2276G>T

Surrounding Variants

5 papers

NM_003560.4

p.R759Splc

c.2277-1G>C

1 paper

NM_003560.4

p.R759Splc

c.2277-2A>C

1 paper

NM_003560.4

p.N761K

c.2283C>G

3 papers

NM_001004426.3

p.N707fs

c.2119_2120fs

NM_003560.4

p.N761fs

c.2281_2282fs

1 paper

NM_001004426.3

p.N707insFs

c.2120dupA

1 paper

NM_003560.4

p.N761K

c.2283C>A

3 papers

NM_003560.4

p.Q763*

c.2287C>T

3 papers

NM_003560.4

p.D771N

c.2311G>A

1 paper

NM_003560.4

p.V773F

c.2317G>T

7 papers

NM_003560.4

p.S774I

c.2321G>T

7 papers

NM_003560.4

p.N780S

c.2339A>G

3 papers

NM_003560.4

p.N780N

c.2340C>T