Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L279fs

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
5 papers
NM_000237.3
p.L279fs
c.835_836fs
Surrounding Variants
30 papers
NM_000237.3
p.L279V
c.835C>G
17 papers
NM_000237.3
p.L279R
c.836T>G
3 papers
NM_000237.3
p.S278C
c.833C>G
2 papers
NM_000237.3
p.S278F
c.833C>T
5 papers
NM_000237.3
p.L280delFs
c.840delG
8 papers
NM_000237.3
p.L279delFs
c.835_836delCT
5 papers
NM_000237.3
p.N281fs
c.841_842fs
25 papers
NM_000237.3
p.D277N
c.829G>A
2 papers
NM_000237.3
p.D277H
c.829G>C
2 papers
NM_000237.3
p.D277fs
c.829_830fs
1 paper
NM_000237.3
p.N281S
c.842A>G
3 papers
NM_000237.3
p.I276T
c.827T>C
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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."