Varaico: Literature-Extracted Genetic Variants

PLB1

539 papers

RefSeq Summary

This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition,...

Pfam Domains

Lipase_GDSLaa 394–668UCSCGDSL-like Lipase/Acylhydrolase

Lipase_GDSLaa 741–1015UCSCGDSL-like Lipase/Acylhydrolase

Lipase_GDSLaa 1097–1362UCSCGDSL-like Lipase/Acylhydrolase

Gene Aliases

HGNC Name

phospholipase B1

HGNC Alias Symbol

FLJ30866

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153021.5

p.L508P

c.1523T>C

Surrounding Variants

1 paper

NM_153021.5

p.G511D

c.1532G>A

1 paper

NM_153021.5

p.G512A

c.1535G>C

1 paper

NM_153021.5

p.N513S

c.1538A>G

1 paper

NM_153021.5

p.N513delFs

c.1539delT

1 paper

NM_153021.5

p.D521D

c.1563T>C

1 paper

NM_153021.5

p.D494E

c.1482C>A

1 paper

NM_153021.5

p.D494E

c.1482C>G

1 paper

NM_153021.5

p.D494A

c.1481A>C

1 paper

NM_153021.5

p.L487L

c.1459C>T

1 paper

NM_153021.5

p.Y525C

c.1574A>G

2 papers

NM_153021.5

p.I540V

c.1618A>G

1 paper

NM_153021.5

p.R547Q

c.1640G>A