Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R137Q

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.R137Q
c.410G>A
Surrounding Variants
1 paper
NM_000237.3
p.R137L
c.410G>T
1 paper
NM_000237.3
p.R137W
c.409C>T
2 papers
NM_000237.3
p.F138_E143delFs
c.413_429del17
2 papers
NM_000237.3
p.A136P
c.406G>C
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.I139I
c.417C>T
1 paper
NM_000237.3
p.N140K
c.420C>G
3 papers
NM_000237.3
p.W141*
c.422G>A
7 papers
NM_000237.3
p.Q133*
c.397C>T
1 paper
NM_000237.3
p.W141*
c.423G>A
1 paper
NM_000237.3
p.W141C
c.423G>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."