Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.F297L

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.F297L
c.889T>C
Surrounding Variants
1 paper
NM_000237.3
p.F297insFs
c.891dupT
3 papers
NM_000237.3
p.F297L
c.891T>A
4 papers
NM_000237.3
p.F297L
c.891T>G
1 paper
NM_000237.3
p.A296T
c.886G>A
2 papers
NM_000237.3
p.G300_K307insFs
c.899_921dup23
1 paper
NM_000237.3
p.E295D
c.885A>C
1 paper
NM_000237.3
p.E295D
c.885A>T
8 papers
NM_000237.3
p.E298D
c.894G>C
11 papers
NM_000237.3
p.E298D
c.894G>T
1 paper
NM_000237.3
p.G300_R306insFs
c.899_917dup19
1 paper
NM_000237.3
p.K294Q
c.880A>C
2 papers
NM_000237.3
p.G300R
c.898G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."