Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.L90P

PLIN1

160 papers

RefSeq Summary

The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-de...

Pfam Domains

Perilipinaa 13–414UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 1

HGNC Previous Name

perilipin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002666.5
p.L90P
c.269T>C
Surrounding Variants
2 papers
NM_002666.5
p.N88S
c.263A>G
1 paper
NM_002666.5
p.R93*
c.277C>T
1 paper
NM_002666.5
p.T85insFs
c.255dupA
1 paper
NM_002666.5
p.F84Splc
c.251-1G>A
1 paper
NM_002666.5
p.F84Splc
c.251-2A>C
1 paper
NM_002666.5
p.Q106*
c.316C>T
1 paper
NM_002666.5
p.Q106P
c.317A>C
1 paper
NM_002666.5
p.Y107H
c.319T>C
1 paper
NM_002666.5
p.Y107Y
c.321C>T
1 paper
NM_002666.5
p.Y107*
c.321C>G
1 paper
NM_002666.5
p.Y107*
c.321C>A
1 paper
NM_002666.5
p.P109insFs
c.326dupC
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