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.G753R

c.2257G>A

Surrounding Variants

1 paper

NM_153021.5

p.G753R

c.2257G>C

1 paper

NM_153021.5

p.G753A

c.2258G>C

5 papers

NM_153021.5

p.G755R

c.2263G>C

1 paper

NM_153021.5

p.A750T

c.2248G>A

1 paper

NM_153021.5

p.D760Y

c.2278G>T

1 paper

NM_153021.5

p.T766I

c.2297C>T

1 paper

NM_153021.5

p.S774I

c.2321G>T

1 paper

NM_153021.5

p.S774Splc

c.2321+4A>G

1 paper

NM_153021.5

p.S774Splc

c.2321+70T>A

1 paper

NM_153021.5

p.S774Splc

c.2321+269G>T

1 paper

NM_153021.5

p.T749_A750Splc

c.2247+2T>G

1 paper

NM_153021.5

p.D746Y

c.2236G>T