Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A458fs

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.A458fs
c.1372_1373fs
Surrounding Variants
3 papers
NM_000237.3
p.A458delFs
c.1373delC
1 paper
NM_000237.3
p.A458V
c.1373C>T
1 paper
NM_000237.3
p.K457N
c.1371G>C
1 paper
NM_000237.3
p.K457N
c.1371G>T
1 paper
NM_000237.3
p.P459S
c.1375C>T
1 paper
NM_000237.3
p.A460V
c.1379C>T
1 paper
NM_000237.3
p.V461A
c.1382T>C
1 paper
NM_000237.3
p.F462S
c.1385T>C
1 paper
NM_000237.3
p.H452Q
c.1356T>A
1 paper
NM_000237.3
p.H452Q
c.1356T>G
1 paper
NM_000237.3
p.H452R
c.1355A>G
1 paper
NM_000237.3
p.V463V
c.1389G>A
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