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.L214R

c.641T>G

Surrounding Variants

1 paper

NM_153021.5

p.N213D

c.637A>G

1 paper

NM_153021.5

p.D216A

c.647A>C

1 paper

NM_153021.5

p.V212I

c.634G>A

4 papers

NM_153021.5

p.V212L

c.634G>C

4 papers

NM_153021.5

p.V212L

c.634G>T

1 paper

NM_153021.5

p.L217insFs

c.649_650insG

1 paper

NM_153021.5

p.L217P

c.650T>C

1 paper

NM_153021.5

p.L217R

c.650T>G

2 papers

NM_153021.5

p.S218A

c.652T>G

1 paper

NM_153021.5

p.E219V

c.656A>T

2 papers

NM_153021.5

p.V223I

c.667G>A

3 papers

NM_153021.5

p.V223L

c.667G>C