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.S267T

c.799T>A

Surrounding Variants

1 paper

NM_153021.5

p.S267A

c.799T>G

1 paper

NM_153021.5

p.S267F

c.800C>T

1 paper

NM_153021.5

p.L265L

c.795G>A

1 paper

NM_153021.5

p.S263S

c.789C>T

1 paper

NM_153021.5

p.E272Q

c.814G>C

1 paper

NM_153021.5

p.A260T

c.778G>A

1 paper

NM_153021.5

p.E274D

c.822G>T

1 paper

NM_153021.5

p.V278M

c.832G>A

1 paper

NM_153021.5

p.V278A

c.833T>C

19 papers

NM_153021.5

p.V279F

c.835G>T

3 papers

NM_153021.5

p.Q281R

c.842A>G

1 paper

NM_153021.5

p.P282L

c.845C>T