Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.G242A

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.G242A
c.725G>C
Surrounding Variants
1 paper
NM_000237.3
p.G242R
c.724G>A
1 paper
NM_000237.3
p.G242fs
c.724_725fs
6 papers
NM_000237.3
p.C243S
c.727T>A
6 papers
NM_000237.3
p.C243S
c.728G>C
6 papers
NM_000237.3
p.P241S
c.721C>T
4 papers
NM_000237.3
p.Q240H
c.720G>C
4 papers
NM_000237.3
p.Q240H
c.720G>T
2 papers
NM_000237.3
p.Q240*
c.718C>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.I245T
c.734T>C
1 paper
NM_000237.3
p.I245S
c.734T>G
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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."