Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.N224D

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.N224D
c.670A>G
Surrounding Variants
5 papers
NM_001374623.1
p.E223K
c.667G>A
2 papers
NM_173676.2
p.A131S
c.391G>T
1 paper
NM_001374623.1
p.A231T
c.691G>A
5 papers
NM_001374623.1
p.C216R
c.646T>C
4 papers
NM_001374623.1
p.P235delFs
c.704delC
4 papers
NM_001374623.1
p.P234S
c.700C>T
1 paper
NM_001374623.1
p.P235S
c.703C>T
5 papers
NM_001374623.1
p.P235fs
c.703_704fs
5 papers
NM_001374623.1
p.P235L
c.704C>T
1 paper
NM_001374623.1
p.F211del1
c.631_632delTTC
1 paper
NM_001374623.1
p.H209Y
c.625C>T
1 paper
NM_001374623.1
p.V238_I239Splc
c.714+7G>A
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