Varaico: Literature-Extracted Genetic Variants

Gene:PLIN2
Variant:p.P20_L21del1

PLIN2

123 papers

RefSeq Summary

The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane materia...

Pfam Domains

Perilipinaa 5–409UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 2

HGNC Previous Symbol

ADFP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122.4
p.P20_L21del1
c.60_62delAAG
Surrounding Variants
1 paper
NM_001122.4
p.P20_L21delFs
c.58_61del4
1 paper
NM_001122.4
p.V22E
c.65T>A
1 paper
NM_001122.4
p.P20S
c.58C>T
1 paper
NM_001122.4
p.S24T
c.70T>A
1 paper
NM_001122.4
p.S30F
c.89C>T
1 paper
NM_001122.4
p.S30S
c.90C>T
1 paper
NM_001122.4
p.S31L
c.92C>T
1 paper
NM_001122.4
p.T36A
c.106A>G
1 paper
NM_001122.4
p.P41R
c.122C>G
1 paper
NM_001122.4
p.K44M
c.131A>T
1 paper
NM_001122.4
p.A50V
c.149C>T
1 paper
NM_001122.4
p.E51K
c.151G>A
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