Varaico: Literature-Extracted Genetic Variants

Gene:PLIN4
Variant:p.V246M

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.V246M
c.736G>A
Surrounding Variants
1 paper
NM_001367868.2
p.T262S
c.784A>T
1 paper
NM_001367868.2
p.T262T
c.786T>C
2 papers
NM_001367868.2
p.V263I
c.787G>A
1 paper
NM_001367868.2
p.V224_S227del4
c.670_680del12
1 paper
NM_001367868.2
p.T226I
c.677C>T
1 paper
NM_001367868.2
p.T259_D269delFs
c.776_807del32
1 paper
NM_001367868.2
p.T270del1
c.808_810delGGT
1 paper
NM_001367868.2
p.G277S
c.829G>A
1 paper
NM_001367868.2
p.T276_G277delins
c.828_829delinsCA
1 paper
NM_001367868.2
p.M210I
c.630G>A
1 paper
NM_001367868.2
p.A282T
c.844G>A
1 paper
NM_001367868.2
p.V290M
c.868G>A
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