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.F447I

c.1339T>A

Surrounding Variants

1 paper

NM_153021.5

p.R445L

c.1334G>T

3 papers

NM_153021.5

p.L444P

c.1331T>C

1 paper

NM_153021.5

p.I443insFs

c.1327_1328insA

1 paper

NM_153021.5

p.G453S

c.1357G>A

1 paper

NM_153021.5

p.N442Splc

c.1325-23G>A

1 paper

NM_153021.5

p.A471D

c.1412C>A

1 paper

NM_153021.5

p.R476*

c.1426C>T

1 paper

NM_153021.5

p.R476L

c.1427G>T

1 paper

NM_153021.5

p.A477P

c.1429G>C

1 paper

NM_153021.5

p.E478Q

c.1432G>C

1 paper

NM_153021.5

p.L487L

c.1459C>T

1 paper

NM_153021.5

p.D494A

c.1481A>C