Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.V606V

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.V606V
c.1818G>A
Surrounding Variants
1 paper
NM_001367868.2
p.D632_V644delFs
c.1896_1930del35
1 paper
NM_001367868.2
p.A645_A648delFs
c.1933_1942del10
2 papers
NM_001367868.2
p.K654insFs
c.1960_1961insT
1 paper
NM_001367868.2
p.K654ins1
c.1960_1961insTGT
3 papers
NM_001367868.2
p.I659V
c.1975A>G
1 paper
NM_001367868.2
p.A546T
c.1636G>A
1 paper
NM_001367868.2
p.F667F
c.2001T>C
2 papers
NM_001367868.2
p.S673G
c.2017A>G
2 papers
NM_001367868.2
p.A682V
c.2045C>T
1 paper
NM_001367868.2
p.D522delFs
c.1564delC
1 paper
NM_001367868.2
p.G508insFs
c.1522dupG
1 paper
NM_001367868.2
p.S493_V494delFs
c.1479_1480delCA
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