Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Q262*

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
8 papers
NM_000237.3
p.Q262*
c.784C>T
Surrounding Variants
1 paper
NM_000237.3
p.Q262insFs
c.785_786insG
1 paper
NM_000237.3
p.Q262Q
c.786G>A
1 paper
NM_000237.3
p.L263L
c.787C>T
3 papers
NM_000237.3
p.L263Q
c.788T>A
1 paper
NM_000237.3
p.D259A
c.776A>C
1 paper
NM_000237.3
p.D259V
c.776A>T
1 paper
NM_000237.3
p.C266S
c.796T>A
1 paper
NM_000237.3
p.D259Splc
c.776-5C>G
2 papers
NM_000237.3
p.C266Y
c.797G>A
1 paper
NM_000237.3
p.C266S
c.797G>C
4 papers
NM_000237.3
p.C266*
c.798C>A
7 papers
NM_000237.3
p.C266W
c.798C>G
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."