Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D259N

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.D259N
c.775G>A
Surrounding Variants
1 paper
NM_000237.3
p.D259A
c.776A>C
2 papers
NM_000237.3
p.D259Splc
c.775+1G>A
2 papers
NM_000237.3
p.L257insFs
c.769_770insCA
1 paper
NM_000237.3
p.L257F
c.769C>T
4 papers
NM_000237.3
p.L257fs
c.769_770fs
1 paper
NM_000237.3
p.G256insFs
c.767_768insTA
1 paper
NM_000237.3
p.G256ins1
c.767_768insTAA
2 papers
NM_000237.3
p.G256insFs
c.767_768ins8
4 papers
NM_000237.3
p.G256fs
c.766_767fs
1 paper
NM_000237.3
p.R255G
c.763A>G
1 paper
NM_000237.3
p.R255fs
c.763_764fs
3 papers
NM_000237.3
p.R255_G256delFs
c.765_766delAG
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