Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.V824M

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.V824M
c.2470G>A
Surrounding Variants
1 paper
NM_001367868.2
p.G817G
c.2451T>A
2 papers
NM_001367868.2
p.M816T
c.2447T>C
1 paper
NM_001367868.2
p.N808_A810del3
c.2422_2429del9
1 paper
NM_001367868.2
p.N808_A810del0
c.2423_2428del6
1 paper
NM_001367868.2
p.A810T
c.2428G>A
1 paper
NM_001367868.2
p.A798T
c.2392G>A
1 paper
NM_001367868.2
p.L851V
c.2551C>G
4 papers
NM_001367868.2
p.G850_L851insFs
c.2550_2551insGT
4 papers
NM_001367868.2
p.L851fs
c.2551_2552fs
1 paper
NM_001367868.2
p.L851_K852delFs
c.2553_2554delTC
1 paper
NM_001367868.2
p.K852N
c.2556A>T
1 paper
NM_001367868.2
p.K852N
c.2556A>C
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