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

3 papers

NM_003560.4

p.R649C

c.1945C>T

Surrounding Variants

2 papers

NM_003560.4

p.R649L

c.1946G>T

8 papers

NM_003560.4

p.R649H

c.1946G>A

1 paper

NM_003560.4

p.G648R

c.1942G>C

1 paper

NM_003560.4

p.G648R

c.1942G>A

4 papers

NM_003560.4

p.F650S

c.1949T>C

2 papers

NM_003560.4

p.R645_P646delFs

c.1934_1938del5

3 papers

NM_003560.4

p.P646L

c.1937C>T

3 papers

NM_003560.4

p.P646H

c.1937C>A

1 paper

NM_003560.4

p.R645Q

c.1934G>A

8 papers

NM_003560.4

p.G653S

c.1957G>A

19 papers

NM_003560.4

p.R645*

c.1933C>T

2 papers

NM_003560.4

p.R645fs

c.1933_1934fs