Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.K472T

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.K472T
c.1415A>C
Surrounding Variants
1 paper
NM_000237.3
p.K473T
c.1418A>C
1 paper
NM_000237.3
p.N471H
c.1411A>C
1 paper
NM_000237.3
p.K473_S474insFs
c.1419_1420ins4
2 papers
NM_000237.3
p.S474P
c.1420T>C
71 papers
NM_000237.3
p.S474*
c.1421C>A
82 papers
NM_000237.3
p.S474*
c.1421C>G
1 paper
NM_000237.3
p.L470Q
c.1409T>A
2 papers
NM_000237.3
p.*476Splc
c.1427+1G>C
1 paper
NM_000237.3
p.H466P
c.1397A>C
2 papers
NM_000237.3
p.C465Y
c.1394G>A
1 paper
NM_000237.3
p.H466_D467del2
c.1396_1400del6
1 paper
NM_000237.3
p.V463V
c.1389G>A
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