Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.V398fs

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
4 papers
NM_002666.5
p.V398fs
c.1192_1193fs
Surrounding Variants
7 papers
NM_002666.5
p.T397_V398delFs
c.1191_1192delCT
5 papers
NM_002666.5
p.V398fs
c.1192_1193fs
1 paper
NM_002666.5
p.V399A
c.1196T>C
4 papers
NM_002666.5
p.Y401fs
c.1201_1202fs
3 papers
NM_002666.5
p.Y401insFs
c.1201_1202insT
1 paper
NM_002666.5
p.V402M
c.1204G>A
5 papers
NM_002666.5
p.Y401_V402insFs
c.1202_1205dup4
5 papers
NM_002666.5
p.P403fs
c.1207_1208fs
1 paper
NM_002666.5
p.P403_L404Splc
c.1209+1G>A
2 papers
NM_002666.5
p.A386V
c.1157C>T
1 paper
NM_002666.5
p.R379K
c.1136G>A
1 paper
NM_002666.5
p.P371insFs
c.1112dupC
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