Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A61V

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
4 papers
NM_000237.3
p.A61V
c.182C>T
Surrounding Variants
1 paper
NM_000237.3
p.A61E
c.182C>A
2 papers
NM_000237.3
p.A61insFs
c.183dupA
2 papers
NM_000237.3
p.E62fs
c.184_185fs
1 paper
NM_000237.3
p.E62G
c.185A>G
2 papers
NM_000237.3
p.E62V
c.185A>T
1 paper
NM_000237.3
p.V60I
c.178G>A
3 papers
NM_000237.3
p.S63F
c.188C>T
1 paper
NM_000237.3
p.S63S
c.189C>A
2 papers
NM_000237.3
p.S63S
c.189C>T
2 papers
NM_000237.3
p.G59R
c.175G>A
2 papers
NM_000237.3
p.G59R
c.175G>C
1 paper
NM_000237.3
p.G59*
c.175G>T
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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."