Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.C150*

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
1 paper
NM_002666.5
p.C150*
c.450C>A
Surrounding Variants
1 paper
NM_002666.5
p.C150R
c.448T>C
1 paper
NM_002666.5
p.L152V
c.454C>G
1 paper
NM_002666.5
p.G149W
c.445G>T
1 paper
NM_002666.5
p.A145delFs
c.433delC
1 paper
NM_002666.5
p.V156delFs
c.466delC
1 paper
NM_002666.5
p.A145fs
c.433_434fs
1 paper
NM_002666.5
p.V142D
c.425T>A
1 paper
NM_002666.5
p.R158delFs
c.474delT
1 paper
NM_002666.5
p.K141N
c.423G>T
1 paper
NM_002666.5
p.K141N
c.423G>C
1 paper
NM_002666.5
p.A164_A165insFs
c.492_493ins4
1 paper
NM_002666.5
p.P134delFs
c.400delG
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