Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.V5ins2

PNPLA1

108 papers

RefSeq Summary

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have divers...

Pfam Domains

Patatinaa 16–182UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 1, omega-hydroxyceramide transacylase

HGNC Alias Symbols

FLJ38755; dJ50J22.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001374623.1
p.V5ins2
c.14_15ins6
Surrounding Variants
1 paper
NM_001374623.1
p.M1V
c.1A>G
5 papers
NM_001374623.1
p.T12S
c.34A>T
2 papers
NM_001374623.1
p.S19*
c.56C>A
1 paper
NM_001374623.1
p.G20insFs
c.59_60insG
8 papers
NM_001374623.1
p.S19L
c.56C>T
1 paper
NM_001374623.1
p.S19S
c.57G>A
1 paper
NM_001374623.1
p.S25_F26ins2
c.75_76ins6
1 paper
NM_001374623.1
p.A29G
c.86C>G
5 papers
NM_001374623.1
p.G30R
c.88G>A
5 papers
NM_001374623.1
p.G30R
c.88G>C
4 papers
NM_001374623.1
p.A31D
c.92C>A
17 papers
NM_001374623.1
p.A34T
c.100G>A
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