Varaico: Literature-Extracted Genetic Variants

PLA2G4E

33 papers

RefSeq Summary

This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member...

Pfam Domains

C2aa 68–172UCSCC2 domain

cPLA2_C2aa 209–321UCSCCytosolic phospholipases A2 C2-domain

PLA2_Baa 374–632UCSCLysophospholipase catalytic domain

Gene Aliases

HGNC Name

phospholipase A2 group IVE

HGNC Alias Symbol

FLJ45651

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

4 papers

NM_001395548.1

p.G643D

c.1928G>A

2 papers

NM_001395548.1

p.R428H

c.1283G>A

1 paper

NM_001395548.1

p.S13Y

c.38C>A

1 paper

NM_001395548.1

p.K32R

c.95A>G

1 paper

NM_001395548.1

p.L35insFs

c.104_105ins4

1 paper

NM_001395548.1

p.L35_S36ins3

c.105_106ins9

1 paper

NM_001395548.1

p.L35_S36insFs

c.105_106ins7

1 paper

NM_001395548.1

p.L35_S36ins2

c.105_106ins6

1 paper

NM_001395548.1

p.L35_S36insFs

c.105_106ins4

1 paper

NM_001395548.1

p.L76L

c.226C>T

1 paper

NM_001395548.1

p.Q96H

c.288G>C

1 paper

NM_001395548.1

p.V104_L105ins4

c.310_314ins12