Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.T332_S334del3

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
1 paper
NM_000237.3
p.T332_S334del3
c.994_1001del9
Surrounding Variants
2 papers
NM_000237.3
p.K331E
c.991A>G
1 paper
NM_000237.3
p.T332I
c.995C>T
3 papers
NM_000237.3
p.R333C
c.997C>T
9 papers
NM_000237.3
p.L330P
c.989T>C
1 paper
NM_000237.3
p.L330L
c.988C>T
10 papers
NM_000237.3
p.R333H
c.998G>A
10 papers
NM_000237.3
p.Y329*
c.987C>A
8 papers
NM_000237.3
p.Y329*
c.987C>G
1 paper
NM_000237.3
p.Y329Y
c.987C>T
1 paper
NM_000237.3
p.R333_S334insFs
c.999_1000ins7
2 papers
NM_000237.3
p.Y329S
c.986A>C
1 paper
NM_000237.3
p.Y329C
c.986A>G
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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."