Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.T83_V84Splc

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
2 papers
NM_000237.3
p.T83_V84Splc
c.250-1G>A
Surrounding Variants
5 papers
NM_000237.3
p.T83_V84Splc
c.250-1G>C
3 papers
NM_000237.3
p.V84I
c.250G>A
2 papers
NM_000237.3
p.V84fs
c.250_251fs
2 papers
NM_000237.3
p.V84V
c.252A>G
3 papers
NM_000237.3
p.T85fs
c.253_254fs
1 paper
NM_000237.3
p.T85R
c.254C>G
2 papers
NM_000237.3
p.G86R
c.256G>A
2 papers
NM_000237.3
p.G86R
c.256G>C
1 paper
NM_000237.3
p.G86A
c.257G>C
1 paper
NM_000237.3
p.G86G
c.258A>G
1 paper
NM_000237.3
p.G86G
c.258A>T
1 paper
NM_000237.3
p.M87I
c.261G>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."