Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.F76L

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.F76L
c.226T>C
Surrounding Variants
1 paper
NM_000237.3
p.F76S
c.227T>C
4 papers
NM_000237.3
p.F76L
c.228C>A
1 paper
NM_000237.3
p.T75N
c.224C>A
1 paper
NM_000237.3
p.F76L
c.228C>G
1 paper
NM_000237.3
p.M77L
c.229A>C
1 paper
NM_000237.3
p.K74N
c.222A>C
1 paper
NM_000237.3
p.S73R
c.219C>A
1 paper
NM_000237.3
p.S73R
c.219C>G
1 paper
NM_000237.3
p.S73R
c.217A>C
2 papers
NM_000237.3
p.S72N
c.215G>A
2 papers
NM_000237.3
p.S72T
c.215G>C
2 papers
NM_000237.3
p.S72G
c.214A>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."