Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.H452Q

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.H452Q
c.1356T>A
Surrounding Variants
1 paper
NM_000237.3
p.H452Q
c.1356T>G
1 paper
NM_000237.3
p.H452R
c.1355A>G
1 paper
NM_000237.3
p.H452Y
c.1354C>T
1 paper
NM_000237.3
p.V450M
c.1348G>A
1 paper
NM_000237.3
p.V450L
c.1348G>C
1 paper
NM_000237.3
p.V450L
c.1348G>T
3 papers
NM_000237.3
p.E448K
c.1342G>A
1 paper
NM_000237.3
p.E448Q
c.1342G>C
1 paper
NM_000237.3
p.K457N
c.1371G>C
1 paper
NM_000237.3
p.K457N
c.1371G>T
3 papers
NM_000237.3
p.A458delFs
c.1373delC
2 papers
NM_000237.3
p.A458fs
c.1372_1373fs
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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."