Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.K94R

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.K94R
c.281A>G
Surrounding Variants
2 papers
NM_000237.3
p.K94_A98del5
c.280_293del15
1 paper
NM_000237.3
p.L95F
c.283C>T
2 papers
NM_000237.3
p.P93L
c.278C>T
1 paper
NM_000237.3
p.L95R
c.284T>G
4 papers
NM_000237.3
p.V96delFs
c.287_288delTG
1 paper
NM_000237.3
p.P93S
c.277C>T
1 paper
NM_000237.3
p.V96M
c.286G>A
9 papers
NM_000237.3
p.V96L
c.286G>C
1 paper
NM_000237.3
p.V96_A97insGT
c.286_290ins6
7 papers
NM_000237.3
p.V96L
c.286G>T
1 paper
NM_000237.3
p.V92V
c.276G>T
1 paper
NM_000237.3
p.P93_A97del5
c.277_290del15
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