Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.N318D

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.N318D
c.952A>G
Surrounding Variants
2 papers
NM_000237.3
p.N318fs
c.952_953fs
67 papers
NM_000237.3
p.N318S
c.953A>G
1 paper
NM_000237.3
p.I317_N318insFs
c.951_952insT
2 papers
NM_000237.3
p.N318delFs
c.953delA
1 paper
NM_000237.3
p.I317insFs
c.949_950insA
1 paper
NM_000237.3
p.E316K
c.946G>A
1 paper
NM_000237.3
p.V320I
c.958G>A
1 paper
NM_000237.3
p.V320F
c.958G>T
3 papers
NM_000237.3
p.Y315*
c.945T>A
1 paper
NM_000237.3
p.Y315*
c.945T>G
1 paper
NM_000237.3
p.Y315_E316insC
c.943_947ins3
1 paper
NM_000237.3
p.Y315fs
c.943_944fs
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