Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.A59V

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
12 papers
NM_001374623.1
p.A59V
c.176C>T
Surrounding Variants
1 paper
NM_001374623.1
p.A59_A60insG
c.175_179ins3
1 paper
NM_001374623.1
p.A60T
c.178G>A
1 paper
NM_001374623.1
p.I58_A59insG
c.172_176ins3
1 paper
NM_001374623.1
p.A56T
c.166G>A
2 papers
NM_001374623.1
p.G65R
c.193G>A
1 paper
NM_001374623.1
p.G65R
c.193G>C
6 papers
NM_001374623.1
p.S53W
c.158C>G
7 papers
NM_001374623.1
p.S53L
c.158C>T
6 papers
NM_001374623.1
p.S53P
c.157T>C
1 paper
NM_001374623.1
p.I66fs
c.196_197fs
1 paper
NM_001374623.1
p.T52ins2
c.154_155ins6
1 paper
NM_001374623.1
p.A50E
c.149C>A
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