Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.A315A

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.A315A
c.945C>T
Surrounding Variants
1 paper
NM_001367868.2
p.T328T
c.984T>C
2 papers
NM_001367868.2
p.V329I
c.985G>A
1 paper
NM_001367868.2
p.T300S
c.898A>T
3 papers
NM_001367868.2
p.V296I
c.886G>A
1 paper
NM_001367868.2
p.T295T
c.885T>C
1 paper
NM_001367868.2
p.T295I
c.884C>T
1 paper
NM_001367868.2
p.T295S
c.883A>T
1 paper
NM_001367868.2
p.S293T
c.878G>C
1 paper
NM_001367868.2
p.G340V
c.1019G>T
1 paper
NM_001367868.2
p.V290M
c.868G>A
1 paper
NM_001367868.2
p.G343S
c.1027G>A
1 paper
NM_001367868.2
p.A282T
c.844G>A
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