Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Y289Y

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.Y289Y
c.867C>T
Surrounding Variants
3 papers
NM_000237.3
p.Y289*
c.867C>A
2 papers
NM_000237.3
p.Y289*
c.867C>G
2 papers
NM_000237.3
p.Y289H
c.865T>C
1 paper
NM_000237.3
p.R290R
c.870G>A
1 paper
NM_000237.3
p.A288D
c.863C>A
1 paper
NM_000237.3
p.A288G
c.863C>G
13 papers
NM_000237.3
p.A288T
c.862G>A
6 papers
NM_000237.3
p.C291Y
c.872G>A
1 paper
NM_000237.3
p.A288P
c.862G>C
1 paper
NM_000237.3
p.C291F
c.872G>T
3 papers
NM_000237.3
p.C291*
c.873C>A
1 paper
NM_000237.3
p.S292delFs
c.874_875delAG
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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."