Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Q133_D134del2

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.Q133_D134del2
c.397_401del6
Surrounding Variants
2 papers
NM_000237.3
p.Q133_E143del11
c.397_428del33
7 papers
NM_000237.3
p.Q133*
c.397C>T
2 papers
NM_000237.3
p.G132E
c.395G>A
1 paper
NM_000237.3
p.G132V
c.395G>T
5 papers
NM_000237.3
p.G132R
c.394G>A
3 papers
NM_000237.3
p.G132R
c.394G>C
1 paper
NM_000237.3
p.V131delFs
c.393delG
1 paper
NM_000237.3
p.V131ins1
c.391_392insACA
1 paper
NM_000237.3
p.L130M
c.388C>A
5 papers
NM_000237.3
p.V135V
c.405G>A
1 paper
NM_000237.3
p.V135V
c.405G>C
1 paper
NM_000237.3
p.K129T
c.386A>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."