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

4 papers

NM_001170585.2

p.R563G

c.1687A>G

NM_153021.5

p.R574G

c.1720A>G

Surrounding Variants

1 paper

NM_153021.5

p.V570I

c.1708G>A

1 paper

NM_153021.5

p.E563A

c.1688A>C

1 paper

NM_153021.5

p.V559I

c.1675G>A

1 paper

NM_153021.5

p.N551D

c.1651A>G

1 paper

NM_153021.5

p.A548T

c.1642G>A

1 paper

NM_153021.5

p.R547Q

c.1640G>A

2 papers

NM_153021.5

p.I540V

c.1618A>G

1 paper

NM_153021.5

p.Y525C

c.1574A>G

1 paper

NM_153021.5

p.D521D

c.1563T>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.G512A

c.1535G>C