Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.N308_R309insFs

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.N308_R309insFs
c.924_925insG
Surrounding Variants
1 paper
NM_000237.3
p.N308K
c.924C>A
1 paper
NM_000237.3
p.N308K
c.924C>G
2 papers
NM_000237.3
p.R309delFs
c.925delC
2 papers
NM_000237.3
p.R309C
c.925C>T
2 papers
NM_000237.3
p.R309fs
c.925_926fs
1 paper
NM_000237.3
p.N308D
c.922A>G
2 papers
NM_000237.3
p.N308fs
c.922_923fs
3 papers
NM_000237.3
p.R309H
c.926G>A
1 paper
NM_000237.3
p.C310S
c.928T>A
8 papers
NM_000237.3
p.C310R
c.928T>C
1 paper
NM_000237.3
p.K307*
c.919A>T
1 paper
NM_000237.3
p.K307fs
c.919_920fs
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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."