Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.H55D

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.H55D
c.163C>G
Surrounding Variants
1 paper
NM_000237.3
p.H55P
c.164A>C
4 papers
NM_000237.3
p.C54*
c.162C>A
1 paper
NM_000237.3
p.H55H
c.165C>T
2 papers
NM_000237.3
p.T53A
c.157A>G
1 paper
NM_000237.3
p.D52_P58del0
c.156_173del18
1 paper
NM_000237.3
p.P58_H71del14
c.172_212del42
2 papers
NM_000237.3
p.P58T
c.172C>A
1 paper
NM_000237.3
p.P58S
c.172C>T
3 papers
NM_000237.3
p.D52H
c.154G>C
8 papers
NM_000237.3
p.P58R
c.173C>G
1 paper
NM_000237.3
p.P58P
c.174C>G
2 papers
NM_000237.3
p.G59R
c.175G>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."