Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.G728_T729delins

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.G728_T729delins
c.2184_2186delinsGGA
Surrounding Variants
3 papers
NM_001367868.2
p.G728G
c.2184T>A
1 paper
NM_001367868.2
p.T727I
c.2180C>T
1 paper
NM_001367868.2
p.G736R
c.2206G>C
1 paper
NM_001367868.2
p.G736R
c.2206G>A
1 paper
NM_001367868.2
p.G736A
c.2207G>C
1 paper
NM_001367868.2
p.D720insFs
c.2158_2159insTG
1 paper
NM_001367868.2
p.Q749insFs
c.2246_2247insG
1 paper
NM_001367868.2
p.G750fs
c.2248_2249fs
4 papers
NM_001367868.2
p.G751S
c.2251G>A
1 paper
NM_001367868.2
p.L752L
c.2256G>A
1 paper
NM_001367868.2
p.A765T
c.2293G>A
1 paper
NM_001367868.2
p.A765A
c.2295T>C
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