Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.R489C

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
2 papers
NM_002666.5
p.R489C
c.1465C>T
Surrounding Variants
1 paper
NM_002666.5
p.G483_R489insFs
c.1448_1466dup19
1 paper
NM_002666.5
p.E490K
c.1468G>A
2 papers
NM_002666.5
p.E490fs
c.1468_1469fs
1 paper
NM_002666.5
p.P492_K493ins4
c.1474_1478ins12
1 paper
NM_002666.5
p.G483R
c.1447G>C
1 paper
NM_002666.5
p.P482S
c.1444C>T
1 paper
NM_002666.5
p.T476_P480delFs
c.1426_1439del14
1 paper
NM_002666.5
p.T476fs
c.1426_1427fs
1 paper
NM_002666.5
p.G467_G469insFs
c.1401_1405dup5
1 paper
NM_002666.5
p.G469fs
c.1405_1406fs
1 paper
NM_002666.5
p.P466insFs
c.1398dupC
1 paper
NM_002666.5
p.P466delFs
c.1398delG
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