Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.D522delFs

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
Selected Variant
1 paper
NM_001367868.2
p.D522delFs
c.1564delC
Surrounding Variants
1 paper
NM_001367868.2
p.G508insFs
c.1522dupG
1 paper
NM_001367868.2
p.A546T
c.1636G>A
1 paper
NM_001367868.2
p.S493_V494delFs
c.1479_1480delCA
1 paper
NM_001367868.2
p.G472E
c.1415G>A
1 paper
NM_001367868.2
p.V455_D456insC
c.1363_1367ins3
1 paper
NM_001367868.2
p.G449E
c.1346G>A
1 paper
NM_001367868.2
p.L446_A447delFs
c.1338_1339delCC
1 paper
NM_001367868.2
p.V606V
c.1818G>A
1 paper
NM_001367868.2
p.I428V
c.1282A>G
1 paper
NM_001367868.2
p.N427fs
c.1279_1280fs
1 paper
NM_001367868.2
p.N427N
c.1281T>C
1 paper
NM_001367868.2
p.N427insFs
c.1280_1281insC
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