Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.C291*

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.C291*
c.873C>A
Surrounding Variants
1 paper
NM_000237.3
p.S292delFs
c.874_875delAG
1 paper
NM_000237.3
p.S292G
c.874A>G
1 paper
NM_000237.3
p.S292C
c.874A>T
6 papers
NM_000237.3
p.C291Y
c.872G>A
1 paper
NM_000237.3
p.C291F
c.872G>T
1 paper
NM_000237.3
p.R290R
c.870G>A
2 papers
NM_000237.3
p.S293P
c.877T>C
1 paper
NM_000237.3
p.S293F
c.878C>T
3 papers
NM_000237.3
p.Y289*
c.867C>A
2 papers
NM_000237.3
p.Y289*
c.867C>G
1 paper
NM_000237.3
p.Y289Y
c.867C>T
1 paper
NM_000237.3
p.K294Q
c.880A>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."