The PAFAH1B1 gene homepage

General information
Gene symbol PAFAH1B1
Gene name platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_009799.1
Transcript reference NM_000430.3
Associated with diseases ID, LIS-1, Miller-Dieker lissencephaly syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 37
Individuals with public variants 88
Hidden variants 5
Date created May 03, 2013
Date last updated July 10, 2020
Version PAFAH1B1:200710

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 8574
Entrez Gene 5048
PubMed articles PAFAH1B1
OMIM - Gene 601545
OMIM - Diseases LIS-1 (lissencephaly, type 1 (LIS-1))

Active transcripts




NCBI ID     

NCBI Protein ID     

00015599 17 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) NM_000430.3 NP_000421.1 38

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