Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.A450T

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.A450T
c.1348G>A
Surrounding Variants
1 paper
NM_002666.5
p.Q451*
c.1351C>T
1 paper
NM_002666.5
p.R453H
c.1358G>A
2 papers
NM_002666.5
p.P439fs
c.1315_1316fs
1 paper
NM_002666.5
p.S436_G437delFs
c.1308_1309delCA
1 paper
NM_002666.5
p.P465L
c.1394C>T
1 paper
NM_002666.5
p.R434K
c.1301G>A
1 paper
NM_002666.5
p.P466insFs
c.1398dupC
1 paper
NM_002666.5
p.P466delFs
c.1398delG
1 paper
NM_002666.5
p.G467fs
c.1399_1400fs
1 paper
NM_002666.5
p.G469fs
c.1405_1406fs
1 paper
NM_002666.5
p.G467_G469insFs
c.1401_1405dup5
1 paper
NM_002666.5
p.E427*
c.1279G>T
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