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.R702W

c.2104A>T

Surrounding Variants

1 paper

NM_153021.5

p.Y704F

c.2111A>T

1 paper

NM_153021.5

p.Q698H

c.2094G>C

1 paper

NM_153021.5

p.Q698H

c.2094G>T

1 paper

NM_153021.5

p.Q696_V697Splc

c.2089-2A>G

5 papers

NM_153021.5

p.M708V

c.2122A>G

1 paper

NM_153021.5

p.Q709*

c.2125C>T

1 paper

NM_153021.5

p.Q709_G710Splc

c.2128-1G>A

1 paper

NM_153021.5

p.S723A

c.2167T>G

1 paper

NM_153021.5

p.K688E

c.2062A>G

2 papers

NM_153021.5

p.R682H

c.2045G>A

1 paper

NM_153021.5

p.T680M

c.2039C>T

1 paper

NM_153021.5

p.N670Y

c.2008A>T