Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V227F

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.V227F
c.679G>T
Surrounding Variants
9 papers
NM_000237.3
p.V227A
c.680T>C
5 papers
NM_000237.3
p.V227G
c.680T>G
4 papers
NM_000237.3
p.P226L
c.677C>T
1 paper
NM_000237.3
p.P226T
c.676C>A
1 paper
NM_000237.3
p.K225N
c.675A>C
1 paper
NM_000237.3
p.K225N
c.675A>T
1 paper
NM_000237.3
p.K225_P226Fs
c.675_676delinsGFs
1 paper
NM_000237.3
p.G228E
c.683G>A
1 paper
NM_000237.3
p.G228A
c.683G>C
1 paper
NM_000237.3
p.G228V
c.683G>T
2 papers
NM_000237.3
p.K225R
c.674A>G
1 paper
NM_000237.3
p.G228_H229insFs
c.684_685insA
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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."