Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L209*

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
3 papers
NM_000237.3
p.L209*
c.626T>G
Surrounding Variants
1 paper
NM_000237.3
p.L209*
c.626T>A
2 papers
NM_000237.3
p.L209fs
c.625_626fs
3 papers
NM_000237.3
p.H210D
c.628C>G
1 paper
NM_000237.3
p.H210P
c.629A>C
6 papers
NM_000237.3
p.H210R
c.629A>G
3 papers
NM_000237.3
p.H210L
c.629A>T
2 papers
NM_000237.3
p.V208delFs
c.624delC
3 papers
NM_000237.3
p.H210Q
c.630C>A
3 papers
NM_000237.3
p.H210Q
c.630C>G
3 papers
NM_000237.3
p.V208I
c.622G>A
1 paper
NM_000237.3
p.T211S
c.631A>T
2 papers
NM_000237.3
p.D207E
c.621C>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."