Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.E298D

LPL

1,048 papers

RefSeq Summary

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor f...

Pfam Domains

Lipaseaa 17–338UCSCLipase
PLATaa 343–463UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipoprotein lipase

HGNC Previous Symbol

LIPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_000237.3
p.E298D
c.894G>T
Surrounding Variants
8 papers
NM_000237.3
p.E298D
c.894G>C
1 paper
NM_000237.3
p.G300_R306insFs
c.899_917dup19
2 papers
NM_000237.3
p.G300_K307insFs
c.899_921dup23
3 papers
NM_000237.3
p.F297L
c.891T>A
4 papers
NM_000237.3
p.F297L
c.891T>G
2 papers
NM_000237.3
p.G300R
c.898G>A
2 papers
NM_000237.3
p.G300R
c.898G>C
3 papers
NM_000237.3
p.F297L
c.889T>C
1 paper
NM_000237.3
p.F297insFs
c.891dupT
3 papers
NM_000237.3
p.L301delFs
c.901delC
2 papers
NM_000237.3
p.L301fs
c.901_902fs
1 paper
NM_000237.3
p.A296T
c.886G>A
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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."