Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.L865fs

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.L865fs
c.2593_2594fs
Surrounding Variants
1 paper
NM_001367868.2
p.L865Fs
c.2593delinsGTCFs
1 paper
NM_001367868.2
p.L865_G866insFs
c.2595_2596insGT
1 paper
NM_001367868.2
p.G868R
c.2602G>C
1 paper
NM_001367868.2
p.G868R
c.2602G>A
2 papers
NM_001367868.2
p.G868A
c.2603G>C
1 paper
NM_001367868.2
p.T859I
c.2576C>T
1 paper
NM_001367868.2
p.A872T
c.2614G>A
1 paper
NM_001367868.2
p.A872A
c.2616T>G
2 papers
NM_001367868.2
p.K874N
c.2622A>T
2 papers
NM_001367868.2
p.K874N
c.2622A>C
1 paper
NM_001367868.2
p.A876A
c.2628C>G
1 paper
NM_001367868.2
p.K852N
c.2556A>T
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