Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.K40E

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
1 paper
NM_000237.3
p.K40E
c.118A>G
Surrounding Variants
2 papers
NM_000237.3
p.K40delFs
c.118delA
1 paper
NM_000237.3
p.S39N
c.116G>A
1 paper
NM_000237.3
p.F41S
c.122T>C
1 paper
NM_000237.3
p.E38A
c.113A>C
1 paper
NM_000237.3
p.E38G
c.113A>G
6 papers
NM_000237.3
p.E38K
c.112G>A
1 paper
NM_000237.3
p.E38Q
c.112G>C
1 paper
NM_000237.3
p.E38insFs
c.112_113insA
1 paper
NM_000237.3
p.L43insFs
c.127dupC
1 paper
NM_000237.3
p.E38*
c.112G>T
1 paper
NM_000237.3
p.I37M
c.111C>G
1 paper
NM_000237.3
p.E38del1
c.112_113delGAA
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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."