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

3 papers

NM_153021.5

p.R297*

c.889C>T

Surrounding Variants

1 paper

NM_153021.5

p.P296P

c.888C>G

1 paper

NM_153021.5

p.R297Q

c.890G>A

1 paper

NM_153021.5

p.E294D

c.882G>C

1 paper

NM_153021.5

p.E294D

c.882G>T

1 paper

NM_153021.5

p.S301F

c.902C>T

1 paper

NM_153021.5

p.T303M

c.908C>T

1 paper

NM_153021.5

p.L308H

c.923T>A

1 paper

NM_153021.5

p.M312T

c.935T>C

1 paper

NM_153021.5

p.S290F

c.869C>T

1 paper

NM_153021.5

p.T288S

c.863C>G

1 paper

NM_153021.5

p.P282L

c.845C>T

3 papers

NM_153021.5

p.Q281R

c.842A>G