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.R682H

c.2045G>A

Surrounding Variants

1 paper

NM_153021.5

p.T680M

c.2039C>T

1 paper

NM_153021.5

p.K688E

c.2062A>G

1 paper

NM_153021.5

p.N670Y

c.2008A>T

1 paper

NM_153021.5

p.S666I

c.1997G>T

1 paper

NM_153021.5

p.H655L

c.1964A>T

1 paper

NM_153021.5

p.C653*

c.1959T>A

1 paper

NM_153021.5

p.F648V

c.1942T>G

1 paper

NM_153021.5

p.N633N

c.1899C>T

1 paper

NM_153021.5

p.P629L

c.1886C>T

1 paper

NM_153021.5

p.F623L

c.1869T>A

1 paper

NM_153021.5

p.F623L

c.1869T>G

1 paper

NM_153021.5

p.F623L

c.1867T>C