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

22 papers

NM_003560.4

p.R635Q

c.1904G>A

Surrounding Variants

23 papers

NM_003560.4

p.R635*

c.1903C>T

NM_001004426.3

p.R581*

c.1741C>T

1 paper

NM_003560.4

p.R635R

c.1903C>A

1 paper

NM_003560.4

p.A634V

c.1901C>T

4 papers

NM_003560.4

p.S637fs

c.1909_1910fs

11 papers

NM_003560.4

p.A633V

c.1898C>T

1 paper

NM_003560.4

p.A633T

c.1897G>A

1 paper

NM_003560.4

p.S637fs

c.1909_1910fs

2 papers

NM_003560.4

p.G638W

c.1912G>T

11 papers

NM_003560.4

p.G638R

c.1912G>C

12 papers

NM_003560.4

p.G638R

c.1912G>A

6 papers

NM_003560.4

p.S637delFs

c.1911delG

2 papers

NM_003560.4

p.S636_S637delins

c.1908_1911delinsC