Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.G237fs

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
3 papers
NM_000237.3
p.G237fs
c.709_710fs
Surrounding Variants
1 paper
NM_000237.3
p.G237fs
c.709_710fs
2 papers
NM_000237.3
p.G237D
c.710G>A
4 papers
NM_000237.3
p.G236delFs
c.708delA
1 paper
NM_000237.3
p.T238A
c.712A>G
1 paper
NM_000237.3
p.T238N
c.713C>A
1 paper
NM_000237.3
p.T238T
c.714T>A
1 paper
NM_000237.3
p.F239L
c.715T>C
31 papers
NM_000237.3
p.P234L
c.701C>T
1 paper
NM_000237.3
p.F239L
c.717T>A
1 paper
NM_000237.3
p.F239L
c.717T>G
2 papers
NM_000237.3
p.Q240*
c.718C>T
1 paper
NM_000237.3
p.P234S
c.700C>T
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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."