Varaico: Literature-Extracted Genetic Variants

Gene:LPL

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
1–12 of 1154 variants
82 papers
NM_000237.3
p.S474*
c.1421C>G
71 papers
NM_000237.3
p.S474*
c.1421C>A
67 papers
NM_000237.3
p.N318S
c.953A>G
65 papers
NM_000237.3
p.G215E
c.644G>A
49 papers
NM_000237.3
p.D36N
c.106G>A
31 papers
NM_000237.3
p.P234L
c.701C>T
30 papers
NM_000237.3
p.L279V
c.835C>G
25 papers
NM_000237.3
p.D277N
c.829G>A
24 papers
NM_000237.3
p.A98T
c.292G>A
22 papers
NM_000237.3
p.R270H
c.809G>A
18 papers
NM_000237.3
p.R270C
c.808C>T
17 papers
NM_000237.3
p.L279R
c.836T>G
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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."