Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D183H

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
5 papers
NM_000237.3
p.D183H
c.547G>C
Surrounding Variants
6 papers
NM_000237.3
p.D183N
c.547G>A
4 papers
NM_000237.3
p.D183G
c.548A>G
1 paper
NM_000237.3
p.D183V
c.548A>T
1 paper
NM_000237.3
p.L182fs
c.544_545fs
1 paper
NM_000237.3
p.L182insFs
c.544_545ins5
3 papers
NM_000237.3
p.P184R
c.551C>G
4 papers
NM_000237.3
p.G181D
c.542G>A
1 paper
NM_000237.3
p.G181A
c.542G>C
2 papers
NM_000237.3
p.G181V
c.542G>T
1 paper
NM_000237.3
p.G181_L182delFs
c.543_544delCC
5 papers
NM_000237.3
p.A185T
c.553G>A
1 paper
NM_000237.3
p.G181Splc
c.542-1G>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."