Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.G222R

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.G222R
c.664G>A
Surrounding Variants
2 papers
NM_000237.3
p.G222E
c.665G>A
2 papers
NM_000237.3
p.I221N
c.662T>A
16 papers
NM_000237.3
p.I221T
c.662T>C
1 paper
NM_000237.3
p.I223F
c.667A>T
6 papers
NM_000237.3
p.S220R
c.660C>A
6 papers
NM_000237.3
p.S220R
c.660C>G
2 papers
NM_000237.3
p.S220N
c.659G>A
7 papers
NM_000237.3
p.S220R
c.658A>C
1 paper
NM_000237.3
p.R219Q
c.656G>A
2 papers
NM_000237.3
p.K225*
c.673A>T
4 papers
NM_000237.3
p.R219*
c.655C>T
2 papers
NM_000237.3
p.K225R
c.674A>G
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."