Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R219*

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
4 papers
NM_000237.3
p.R219*
c.655C>T
Surrounding Variants
1 paper
NM_000237.3
p.R219Q
c.656G>A
1 paper
NM_000237.3
p.G218D
c.653G>A
7 papers
NM_000237.3
p.S220R
c.658A>C
2 papers
NM_000237.3
p.G218fs
c.652_653fs
2 papers
NM_000237.3
p.S220N
c.659G>A
6 papers
NM_000237.3
p.S220R
c.660C>A
6 papers
NM_000237.3
p.S220R
c.660C>G
3 papers
NM_000237.3
p.P217delFs
c.651delT
1 paper
NM_000237.3
p.P217fs
c.649_650fs
1 paper
NM_000237.3
p.S216S
c.648C>T
2 papers
NM_000237.3
p.I221N
c.662T>A
16 papers
NM_000237.3
p.I221T
c.662T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."