Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.F212L

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
3 papers
NM_000237.3
p.F212L
c.634T>C
Surrounding Variants
3 papers
NM_000237.3
p.F212L
c.636C>A
2 papers
NM_000237.3
p.T211K
c.632C>A
3 papers
NM_000237.3
p.F212L
c.636C>G
1 paper
NM_000237.3
p.T213A
c.637A>G
1 paper
NM_000237.3
p.T211S
c.631A>T
3 papers
NM_000237.3
p.H210Q
c.630C>A
3 papers
NM_000237.3
p.H210Q
c.630C>G
1 paper
NM_000237.3
p.T213I
c.638C>T
1 paper
NM_000237.3
p.H210P
c.629A>C
6 papers
NM_000237.3
p.H210R
c.629A>G
3 papers
NM_000237.3
p.H210L
c.629A>T
1 paper
NM_000237.3
p.T213_R214insFs
c.639_640insGA
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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."