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

1–12 of 347 variants

19 papers

NM_153021.5

p.V279F

c.835G>T

5 papers

NM_153021.5

p.M708V

c.2122A>G

5 papers

NM_153021.5

p.G755R

c.2263G>C

4 papers

NM_153021.5

p.V212L

c.634G>C

4 papers

NM_153021.5

p.V212L

c.634G>T

3 papers

NM_153021.5

p.G2R

c.4G>A

3 papers

NM_153021.5

p.V223L

c.667G>C

3 papers

NM_153021.5

p.Q281R

c.842A>G

3 papers

NM_153021.5

p.R297*

c.889C>T

3 papers

NM_153021.5

p.V379A

c.1136T>C

3 papers

NM_153021.5

p.L444P

c.1331T>C

3 papers

NM_153021.5

p.R574G

c.1720A>G