Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.H229H

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.H229H
c.687T>C
Surrounding Variants
1 paper
NM_000237.3
p.V230delFs
c.688delG
3 papers
NM_000237.3
p.H229R
c.686A>G
2 papers
NM_000237.3
p.H229L
c.686A>T
1 paper
NM_000237.3
p.V230fs
c.688_689fs
1 paper
NM_000237.3
p.H229D
c.685C>G
1 paper
NM_000237.3
p.V230A
c.689T>C
1 paper
NM_000237.3
p.G228_H229insFs
c.684_685insA
1 paper
NM_000237.3
p.G228E
c.683G>A
1 paper
NM_000237.3
p.D231N
c.691G>A
1 paper
NM_000237.3
p.G228A
c.683G>C
1 paper
NM_000237.3
p.G228V
c.683G>T
1 paper
NM_000237.3
p.D231E
c.693C>A
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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."