Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L43L

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.L43L
c.129A>T
Surrounding Variants
6 papers
NM_000237.3
p.R44fs
c.130_131fs
2 papers
NM_000237.3
p.L43Q
c.128T>A
1 paper
NM_000237.3
p.L43I
c.127C>A
5 papers
NM_000237.3
p.L43insFs
c.128dupT
1 paper
NM_000237.3
p.L43fs
c.127_128fs
1 paper
NM_000237.3
p.R44K
c.131G>A
1 paper
NM_000237.3
p.R44R
c.132G>A
2 papers
NM_000237.3
p.T45insFs
c.133dupA
1 paper
NM_000237.3
p.T45delFs
c.133_134delAC
4 papers
NM_000237.3
p.T45_D48delFs
c.133_143del11
1 paper
NM_000237.3
p.T45P
c.133A>C
1 paper
NM_000237.3
p.T45A
c.133A>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."