Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P93_A97del5

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.P93_A97del5
c.277_290del15
Surrounding Variants
1 paper
NM_000237.3
p.V92V
c.276G>T
1 paper
NM_000237.3
p.P93S
c.277C>T
2 papers
NM_000237.3
p.P93L
c.278C>T
2 papers
NM_000237.3
p.K94_A98del5
c.280_293del15
8 papers
NM_000237.3
p.W91*
c.273G>A
9 papers
NM_000237.3
p.W91*
c.272G>A
1 paper
NM_000237.3
p.W91S
c.272G>C
1 paper
NM_000237.3
p.V92_V96del5
c.274_287del15
1 paper
NM_000237.3
p.K94R
c.281A>G
1 paper
NM_000237.3
p.L95F
c.283C>T
1 paper
NM_000237.3
p.S90delFs
c.270delT
3 papers
NM_000237.3
p.W91_L95del5
c.271_284del15
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