Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.W113*

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.W113*
c.338G>A
Surrounding Variants
1 paper
NM_000237.3
p.W113ins2
c.338_339ins6
1 paper
NM_000237.3
p.W113insFs
c.338_339ins17
1 paper
NM_000237.3
p.W113insFs
c.338_339ins17
2 papers
NM_000237.3
p.W113*
c.339G>A
13 papers
NM_000237.3
p.W113R
c.337T>A
15 papers
NM_000237.3
p.W113R
c.337T>C
5 papers
NM_000237.3
p.W113G
c.337T>G
1 paper
NM_000237.3
p.W113fs
c.337_338fs
1 paper
NM_000237.3
p.L114V
c.340C>G
1 paper
NM_000237.3
p.D112A
c.335A>C
1 paper
NM_000237.3
p.W113_L114delFs
c.339_342del4
1 paper
NM_000237.3
p.L114P
c.341T>C
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