The PNPLA1 gene homepage

General information
Gene symbol PNPLA1
Gene name patatin-like phospholipase domain containing 1
Chromosome 6
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_032813.1
Transcript reference NM_001145717.1, NM_173676.2
Associated with diseases ARCI10
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 21
Unique public DNA variants reported 17
Individuals with public variants 1
Hidden variants 2
Date created May 03, 2013
Date last updated May 09, 2022
Version PNPLA1:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 21246
Entrez Gene 285848
PubMed articles PNPLA1
OMIM - Gene 612121
OMIM - Diseases ARCI10 (ichthyosis, congenital, autosomal recessive, type 10 (ARCI-10))
Orphanet PNPLA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00025630 6 transcript variant 3 NM_001145717.1 NP_001139189.2 21
00016448 6 transcript variant 1 NM_173676.2 NP_775947.2 20

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