Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.C305S

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
2 papers
NM_000237.3
p.C305S
c.914G>C
Surrounding Variants
1 paper
NM_000237.3
p.C305Y
c.914G>A
2 papers
NM_000237.3
p.C305S
c.913T>A
3 papers
NM_000237.3
p.C305R
c.913T>C
1 paper
NM_000237.3
p.S304N
c.911G>A
1 paper
NM_000237.3
p.K307*
c.919A>T
1 paper
NM_000237.3
p.K307fs
c.919_920fs
8 papers
NM_000237.3
p.L303F
c.909G>C
7 papers
NM_000237.3
p.L303F
c.909G>T
1 paper
NM_000237.3
p.N308D
c.922A>G
2 papers
NM_000237.3
p.N308fs
c.922_923fs
1 paper
NM_000237.3
p.C302*
c.906C>A
2 papers
NM_000237.3
p.R309delFs
c.925delC
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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."