Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.Q340R

PLIN1

160 papers

RefSeq Summary

The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-de...

Pfam Domains

Perilipinaa 13–414UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 1

HGNC Previous Name

perilipin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002666.5
p.Q340R
c.1019A>G
Surrounding Variants
2 papers
NM_002666.5
p.T338_K341delFs
c.1012_1022del11
1 paper
NM_002666.5
p.T338fs
c.1012_1013fs
1 paper
NM_002666.5
p.T338fs
c.1012_1013fs
1 paper
NM_002666.5
p.H337D
c.1009C>G
1 paper
NM_002666.5
p.A336S
c.1006G>T
4 papers
NM_002666.5
p.S348L
c.1043C>T
1 paper
NM_002666.5
p.V335_V350del16
c.1003_1049del48
2 papers
NM_002666.5
p.R329*
c.985C>T
1 paper
NM_002666.5
p.W352*
c.1055G>A
1 paper
NM_002666.5
p.W352*
c.1056G>A
1 paper
NM_002666.5
p.A353insFs
c.1057dupG
1 paper
NM_002666.5
p.P354S
c.1060C>T
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