Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R197L

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.R197L
c.590G>T
Surrounding Variants
15 papers
NM_000237.3
p.R197H
c.590G>A
2 papers
NM_000237.3
p.R197P
c.590G>C
2 papers
NM_000237.3
p.R197C
c.589C>T
1 paper
NM_000237.3
p.L198I
c.592C>A
1 paper
NM_000237.3
p.L198P
c.593T>C
1 paper
NM_000237.3
p.S196C
c.586A>T
2 papers
NM_000237.3
p.S199delFs
c.596delC
2 papers
NM_000237.3
p.S199fs
c.595_596fs
5 papers
NM_000237.3
p.S199C
c.596C>G
4 papers
NM_000237.3
p.P195L
c.584C>T
3 papers
NM_000237.3
p.P200delFs
c.599delC
2 papers
NM_000237.3
p.P200S
c.598C>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."