Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P337A

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.P337A
c.1009C>G
Surrounding Variants
1 paper
NM_000237.3
p.P337ins1
c.1009_1010insCAT
1 paper
NM_000237.3
p.P337insFs
c.1009_1010ins10
1 paper
NM_000237.3
p.P337ins1
c.1010_1011insATT
1 paper
NM_000237.3
p.P337R
c.1010C>G
1 paper
NM_000237.3
p.M336I
c.1008G>A
1 paper
NM_000237.3
p.M336I
c.1008G>C
1 paper
NM_000237.3
p.M336I
c.1008G>T
2 papers
NM_000237.3
p.M336delFs
c.1008delG
2 papers
NM_000237.3
p.M336fs
c.1006_1007fs
1 paper
NM_000237.3
p.Y338D
c.1012T>G
1 paper
NM_000237.3
p.Y338_K339ins6
c.1012_1016ins18
2 papers
NM_000237.3
p.Y338fs
c.1012_1013fs
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