Varaico: Literature-Extracted Genetic Variants

Gene:PLIN3
Variant:p.V42A

PLIN3

57 papers

RefSeq Summary

Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domain...

Pfam Domains

Perilipinaa 18–425UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 3

HGNC Previous Symbol

M6PRBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005817.5
p.V42A
c.125T>C
Surrounding Variants
1 paper
NM_005817.5
p.A44A
c.132A>T
1 paper
NM_005817.5
p.S36N
c.107G>A
1 paper
NM_005817.5
p.M32fs
c.94_95fs
1 paper
NM_005817.5
p.M32V
c.94A>G
1 paper
NM_005817.5
p.P54L
c.161C>T
1 paper
NM_005817.5
p.V29A
c.86T>C
1 paper
NM_005817.5
p.K57K
c.171G>A
1 paper
NM_005817.5
p.C60S
c.178T>A
1 paper
NM_005817.5
p.C60S
c.179G>C
1 paper
NM_005817.5
p.A62T
c.184G>A
1 paper
NM_005817.5
p.E64K
c.190G>A
1 paper
NM_005817.5
p.V67L
c.199G>T
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