Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4

PLIN4

103 papers

RefSeq Summary

Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010].

Pfam Domains

Perilipinaa 1149–1367UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 4

HGNC Previous Symbol

KIAA1881

Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
4 papers
NM_001367868.2
p.G751S
c.2251G>A
4 papers
NM_001367868.2
p.G850_L851insFs
c.2550_2551insGT
4 papers
NM_001367868.2
p.L851fs
c.2551_2552fs
3 papers
NM_001367868.2
p.V296I
c.886G>A
3 papers
NM_001367868.2
p.I659V
c.1975A>G
3 papers
NM_001367868.2
p.G728G
c.2184T>A
2 papers
NM_001367868.2
p.V263I
c.787G>A
2 papers
NM_001367868.2
p.V329I
c.985G>A
2 papers
NM_001367868.2
p.K654insFs
c.1960_1961insT
2 papers
NM_001367868.2
p.S673G
c.2017A>G
2 papers
NM_001367868.2
p.A682V
c.2045C>T
2 papers
NM_001367868.2
p.V766M
c.2296G>A
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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."