Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V96M

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.V96M
c.286G>A
Surrounding Variants
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
2 papers
NM_000237.3
p.V96fs
c.286_287fs
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.L95F
c.283C>T
4 papers
NM_000237.3
p.A97fs
c.289_290fs
2 papers
NM_000237.3
p.A98_L99delFs
c.292_295del4
1 paper
NM_000237.3
p.A97_A98Fs
c.289_294delinsTFs
1 paper
NM_000237.3
p.A97_A98delins
c.289_294delinsTTT
1 paper
NM_000237.3
p.A97_A98Fs
c.289_294delinsTTTGCCAAAAFs
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