Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D112_L114del3

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.D112_L114del3
c.334_341del9
Surrounding Variants
1 paper
NM_000237.3
p.V111L
c.331G>C
1 paper
NM_000237.3
p.V111L
c.331G>T
2 papers
NM_000237.3
p.D112insFs
c.334dupG
2 papers
NM_000237.3
p.D112fs
c.334_335fs
1 paper
NM_000237.3
p.D112A
c.335A>C
1 paper
NM_000237.3
p.W113_L114delFs
c.339_342del4
2 papers
NM_000237.3
p.V111del1
c.331_332delGTG
4 papers
NM_000237.3
p.I109T
c.326T>C
1 paper
NM_000237.3
p.I109insFs
c.327dupT
1 paper
NM_000237.3
p.I109V
c.325A>G
1 paper
NM_000237.3
p.I109F
c.325A>T
13 papers
NM_000237.3
p.W113R
c.337T>A
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