Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P46delFs

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.P46delFs
c.138delT
Surrounding Variants
1 paper
NM_000237.3
p.P46T
c.136C>A
1 paper
NM_000237.3
p.P46_E47del2
c.136_140del6
1 paper
NM_000237.3
p.E47fs
c.139_140fs
3 papers
NM_000237.3
p.T45N
c.134C>A
1 paper
NM_000237.3
p.T45insFs
c.134_135insA
1 paper
NM_000237.3
p.T45S
c.134C>G
1 paper
NM_000237.3
p.T45P
c.133A>C
1 paper
NM_000237.3
p.E47D
c.141A>C
1 paper
NM_000237.3
p.T45A
c.133A>G
1 paper
NM_000237.3
p.T45S
c.133A>T
3 papers
NM_000237.3
p.T45fs
c.133_134fs
1 paper
NM_000237.3
p.R44R
c.132G>A
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