Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Y329S

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.Y329S
c.986A>C
Surrounding Variants
1 paper
NM_000237.3
p.Y329C
c.986A>G
10 papers
NM_000237.3
p.Y329*
c.987C>A
8 papers
NM_000237.3
p.Y329*
c.987C>G
1 paper
NM_000237.3
p.Y329Y
c.987C>T
1 paper
NM_000237.3
p.Y329H
c.985T>C
1 paper
NM_000237.3
p.Y329D
c.985T>G
1 paper
NM_000237.3
p.L330L
c.988C>T
5 papers
NM_000237.3
p.M328I
c.984G>A
4 papers
NM_000237.3
p.M328I
c.984G>C
4 papers
NM_000237.3
p.M328I
c.984G>T
9 papers
NM_000237.3
p.L330P
c.989T>C
6 papers
NM_000237.3
p.M328T
c.983T>C
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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."