Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Y127fs

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
2 papers
NM_000237.3
p.Y127fs
c.379_380fs
Surrounding Variants
1 paper
NM_000237.3
p.G126G
c.378C>T
1 paper
NM_000237.3
p.G126ins2
c.377_378ins6
4 papers
NM_000237.3
p.T128A
c.382A>G
1 paper
NM_000237.3
p.T128insFs
c.383_384insA
1 paper
NM_000237.3
p.T128insFs
c.383_384insT
1 paper
NM_000237.3
p.K129_L130insFs
c.387_388insA
1 paper
NM_000237.3
p.A125V
c.374C>T
1 paper
NM_000237.3
p.T128Fs
c.384delinsTGGFs
2 papers
NM_000237.3
p.T128Fs
c.384delinsTGGGCTFs
3 papers
NM_000237.3
p.K129fs
c.385_386fs
1 paper
NM_000237.3
p.K129_L130delFs
c.386_389del4
1 paper
NM_000237.3
p.K129_L130delFs
c.386_390del5
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