Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.Q179*

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
6 papers
NM_001374623.1
p.Q179*
c.535C>T
Surrounding Variants
5 papers
NM_001374623.1
p.Q179R
c.536A>G
1 paper
NM_001374623.1
p.T176K
c.527C>A
4 papers
NM_001374623.1
p.T176M
c.527C>T
1 paper
NM_001374623.1
p.W184*
c.552G>A
12 papers
NM_001374623.1
p.D172N
c.514G>A
1 paper
NM_001374623.1
p.D186D
c.558C>T
1 paper
NM_001374623.1
p.Y170*
c.510C>A
1 paper
NM_001374623.1
p.Y170*
c.510C>G
1 paper
NM_001374623.1
p.I188L
c.562A>C
1 paper
NM_001374623.1
p.S191Y
c.572C>A
1 paper
NM_001374623.1
p.T192N
c.575C>A
1 paper
NM_001374623.1
p.Q196R
c.587A>G
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