Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.L404fs

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
5 papers
NM_002666.5
p.L404fs
c.1210_1211fs
Surrounding Variants
1 paper
NM_002666.5
p.L404insFs
c.1211_1212insAA
5 papers
NM_002666.5
p.P403_L404Splc
c.1210-1G>T
3 papers
NM_002666.5
p.L404fs
c.1210_1211fs
1 paper
NM_002666.5
p.R406R
c.1218G>A
3 papers
NM_002666.5
p.P412A
c.1234C>G
1 paper
NM_002666.5
p.E425D
c.1275G>T
1 paper
NM_002666.5
p.E425D
c.1275G>C
1 paper
NM_002666.5
p.E427*
c.1279G>T
1 paper
NM_002666.5
p.R434K
c.1301G>A
1 paper
NM_002666.5
p.S436_G437delFs
c.1308_1309delCA
2 papers
NM_002666.5
p.P439fs
c.1315_1316fs
1 paper
NM_002666.5
p.A450T
c.1348G>A
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