Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1

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
1–12 of 182 variants
17 papers
NM_001374623.1
p.A34T
c.100G>A
12 papers
NM_001374623.1
p.A59V
c.176C>T
12 papers
NM_001374623.1
p.E131*
c.391G>T
12 papers
NM_001374623.1
p.D172N
c.514G>A
10 papers
NM_001374623.1
p.D129E
c.387C>A
10 papers
NM_001374623.1
p.D129E
c.387C>G
10 papers
NM_001374623.1
p.K141E
c.421A>G
10 papers
NM_001374623.1
p.P163L
c.488C>T
8 papers
NM_001374623.1
p.S19L
c.56C>T
8 papers
NM_001374623.1
p.A34P
c.100G>C
8 papers
NM_001374623.1
p.T125N
c.374C>A
8 papers
NM_001374623.1
p.S140P
c.418T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."