Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L99P

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.L99P
c.296T>C
Surrounding Variants
1 paper
NM_000237.3
p.L99insFs
c.296dupT
3 papers
NM_000237.3
p.A98G
c.293C>G
5 papers
NM_000237.3
p.A98V
c.293C>T
4 papers
NM_000237.3
p.Y100*
c.300C>A
2 papers
NM_000237.3
p.Y100*
c.300C>G
24 papers
NM_000237.3
p.A98T
c.292G>A
1 paper
NM_000237.3
p.A98fs
c.292_293fs
3 papers
NM_000237.3
p.A97V
c.290C>T
1 paper
NM_000237.3
p.A97_A98Fs
c.290_293delinsGGFs
1 paper
NM_000237.3
p.K101N
c.303G>C
1 paper
NM_000237.3
p.K101N
c.303G>T
4 papers
NM_000237.3
p.A97fs
c.289_290fs
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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."