Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1

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
1–12 of 177 variants
7 papers
NM_002666.5
p.T397_V398delFs
c.1191_1192delCT
6 papers
NM_002666.5
p.L90P
c.269T>C
5 papers
NM_002666.5
p.P194A
c.580C>G
5 papers
NM_002666.5
p.V398fs
c.1192_1193fs
5 papers
NM_002666.5
p.Y401_V402insFs
c.1202_1205dup4
5 papers
NM_002666.5
p.P403fs
c.1207_1208fs
5 papers
NM_002666.5
p.P403_L404Splc
c.1210-1G>T
5 papers
NM_002666.5
p.L404fs
c.1210_1211fs
4 papers
NM_002666.5
p.S348L
c.1043C>T
4 papers
NM_002666.5
p.V398fs
c.1192_1193fs
4 papers
NM_002666.5
p.Y401fs
c.1201_1202fs
3 papers
NM_002666.5
p.R23W
c.67C>T
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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."