Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.V76delFs

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.V76delFs
c.226delC
Surrounding Variants
2 papers
NM_002666.5
p.P75L
c.224C>T
1 paper
NM_002666.5
p.M73I
c.219G>T
1 paper
NM_002666.5
p.L80L
c.240G>C
1 paper
NM_002666.5
p.W71*
c.213G>A
1 paper
NM_002666.5
p.W71*
c.212G>A
3 papers
NM_002666.5
p.T82I
c.245C>T
1 paper
NM_002666.5
p.Q83*
c.247C>T
1 paper
NM_002666.5
p.S66G
c.196A>G
1 paper
NM_002666.5
p.V62M
c.184G>A
1 paper
NM_002666.5
p.V54_N56insFs
c.160_166dup7
1 paper
NM_002666.5
p.C36F
c.107G>T
1 paper
NM_002666.5
p.C36Y
c.107G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."