Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.I428V

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.I428V
c.1282A>G
Surrounding Variants
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
1 paper
NM_001367868.2
p.N427insFs
c.1279_1280insG
1 paper
NM_001367868.2
p.Q426fs
c.1276_1277fs
1 paper
NM_001367868.2
p.Q426insFs
c.1277_1278insGT
1 paper
NM_001367868.2
p.N423N
c.1269C>T
1 paper
NM_001367868.2
p.V413insFs
c.1237_1238insG
1 paper
NM_001367868.2
p.V413insFs
c.1238_1239insC
1 paper
NM_001367868.2
p.N412insFs
c.1235_1236insGT
1 paper
NM_001367868.2
p.L446_A447delFs
c.1338_1339delCC
1 paper
NM_001367868.2
p.G449E
c.1346G>A
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