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

5 papers

NM_003560.4

p.H792P

c.2375A>C

Surrounding Variants

1 paper

NM_003560.4

p.R793H

c.2378G>A

10 papers

NM_003560.4

p.Y790_E791delFs

c.2370_2371delCA

NM_001004426.3

p.Y736_E737delFs

c.2208_2209delCA

1 paper

NM_003560.4

p.Y790del1

c.2368_2369delATA

1 paper

NM_001004426.3

p.Y736fs

c.2206_2207fs

43 papers

NM_003560.4

p.Y790*

c.2370T>G

NM_001004426.3

p.Y736*

c.2208T>G

35 papers

NM_003560.4

p.Y790*

c.2370T>A

1 paper

NM_001004426.3

p.E740K

c.2218G>A

1 paper

NM_003560.4

p.Y790H

c.2368T>C

1 paper

NM_003560.4

p.T785_Y788delFs

c.2355_2364del10

7 papers

NM_003560.4

p.Q797*

c.2389C>T

1 paper

NM_003560.4

p.E786fs

c.2356_2357fs

1 paper

NM_003560.4

p.K798_L799insA

c.2392_2396ins3