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

Selected Variant

1 paper

NM_001395548.1

p.Q431R

c.1292A>G

Surrounding Variants

2 papers

NM_001395548.1

p.R428H

c.1283G>A

1 paper

NM_001395548.1

p.C457Y

c.1370G>A

1 paper

NM_001395548.1

p.Y543D

c.1627T>G

1 paper

NM_001395548.1

p.A311V

c.932C>T

1 paper

NM_001395548.1

p.S566L

c.1697C>T

1 paper

NM_001395548.1

p.L630L

c.1888C>T

4 papers

NM_001395548.1

p.G643D

c.1928G>A

1 paper

NM_001395548.1

p.A700D

c.2099C>A

1 paper

NM_001395548.1

p.L273P

c.818T>C

1 paper

NM_001395548.1

p.P219S

c.655C>T

1 paper

NM_001395548.1

p.V201M

c.601G>A

1 paper

NM_001395548.1

p.Q709*

c.2125C>T