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

6 papers

NM_003560.4

p.S637delFs

c.1911delG

Surrounding Variants

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

2 papers

NM_003560.4

p.S636_S637delins

c.1908_1911delinsC

1 paper

NM_003560.4

p.S637fs

c.1909_1910fs

8 papers

NM_003560.4

p.A639T

c.1915G>A

4 papers

NM_003560.4

p.S637fs

c.1909_1910fs

2 papers

NM_003560.4

p.A639fs

c.1915_1916fs

3 papers

NM_003560.4

p.A639delFs

c.1915delC

1 paper

NM_003560.4

p.A639fs

c.1915_1916fs

1 paper

NM_003560.4

p.A640T

c.1918G>A

22 papers

NM_003560.4

p.R635Q

c.1904G>A