Varaico: Literature-Extracted Genetic Variants

Gene:PLB1
Variant:p.D372H

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.D372H
c.1114G>C
Surrounding Variants
1 paper
NM_153021.5
p.D374N
c.1120G>A
1 paper
NM_153021.5
p.S376F
c.1127C>T
1 paper
NM_153021.5
p.D377H
c.1129G>C
1 paper
NM_153021.5
p.D377Y
c.1129G>T
2 papers
NM_153021.5
p.A366V
c.1097C>T
3 papers
NM_153021.5
p.V379A
c.1136T>C
1 paper
NM_153021.5
p.T381T
c.1143C>G
2 papers
NM_153021.5
p.E361E
c.1083G>A
1 paper
NM_153021.5
p.E361K
c.1081G>A
1 paper
NM_153021.5
p.L360P
c.1079T>C
1 paper
NM_153021.5
p.L360F
c.1078C>T
1 paper
NM_153021.5
p.Y349S
c.1046A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."