Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R214T

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.R214T
c.641G>C
Surrounding Variants
2 papers
NM_000237.3
p.R214I
c.641G>T
3 papers
NM_000237.3
p.R214S
c.642A>C
1 paper
NM_000237.3
p.R214*
c.640A>T
1 paper
NM_000237.3
p.R214S
c.642A>T
1 paper
NM_000237.3
p.T213_R214insFs
c.639_640insGA
1 paper
NM_000237.3
p.R214_Q224del11
c.640_671del33
2 papers
NM_000237.3
p.G215R
c.643G>A
1 paper
NM_000237.3
p.G215R
c.643G>C
1 paper
NM_000237.3
p.T213I
c.638C>T
65 papers
NM_000237.3
p.G215E
c.644G>A
1 paper
NM_000237.3
p.G215insFs
c.644_645insA
1 paper
NM_000237.3
p.T213A
c.637A>G
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