Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P200S

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.P200S
c.598C>T
Surrounding Variants
2 papers
NM_000237.3
p.P200fs
c.598_599fs
3 papers
NM_000237.3
p.P200delFs
c.599delC
5 papers
NM_000237.3
p.S199C
c.596C>G
1 paper
NM_000237.3
p.P200P
c.600T>C
2 papers
NM_000237.3
p.S199delFs
c.596delC
2 papers
NM_000237.3
p.S199fs
c.595_596fs
7 papers
NM_000237.3
p.D201V
c.602A>T
2 papers
NM_000237.3
p.D201E
c.603T>A
1 paper
NM_000237.3
p.L198P
c.593T>C
2 papers
NM_000237.3
p.D201E
c.603T>G
1 paper
NM_000237.3
p.L198I
c.592C>A
3 papers
NM_000237.3
p.D202N
c.604G>A
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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."