Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.R23W

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
3 papers
NM_002666.5
p.R23W
c.67C>T
Surrounding Variants
1 paper
NM_002666.5
p.Q26delFs
c.77delT
1 paper
NM_002666.5
p.E16fs
c.46_47fs
1 paper
NM_002666.5
p.P15_E16Splc
c.46-1G>A
1 paper
NM_002666.5
p.T33P
c.97A>C
1 paper
NM_002666.5
p.T33S
c.98C>G
1 paper
NM_002666.5
p.C36F
c.107G>T
1 paper
NM_002666.5
p.C36Y
c.107G>A
1 paper
NM_002666.5
p.V54_N56insFs
c.160_166dup7
1 paper
NM_002666.5
p.V62M
c.184G>A
1 paper
NM_002666.5
p.S66G
c.196A>G
1 paper
NM_002666.5
p.W71*
c.212G>A
1 paper
NM_002666.5
p.W71*
c.213G>A
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