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

2 papers

NM_153021.5

p.L12M

c.34C>A

Surrounding Variants

1 paper

NM_153021.5

p.E11V

c.32A>T

1 paper

NM_153021.5

p.E11Q

c.31G>C

1 paper

NM_153021.5

p.L10delFs

c.29delT

1 paper

NM_153021.5

p.I7V

c.19A>G

1 paper

NM_153021.5

p.Q18L

c.53A>T

1 paper

NM_153021.5

p.G6delFs

c.16delG

1 paper

NM_153021.5

p.G19W

c.55G>T

1 paper

NM_153021.5

p.G19Splc

c.55+1G>A

3 papers

NM_153021.5

p.G2R

c.4G>A

1 paper

NM_153021.5

p.G2fs

c.4_5fs

1 paper

NM_153021.5

p.M1V

c.1A>G