The PPEF1 gene homepage

General information
Gene symbol PPEF1
Gene name protein phosphatase, EF-hand calcium binding domain 1
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_006240.2
Exon/intron information NM_006240.2 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 24
Individuals with public variants 22
Hidden variants 1
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated December 10, 2021
Version PPEF1:211210

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006240.2.
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
Homepage URL https://www.LOVD.nl/PPEF1
HGNC 9243
Entrez Gene 5475
PubMed articles PPEF1
OMIM - Gene 300109
HGMD PPEF1
GeneCards PPEF1
GeneTests PPEF1
Orphanet PPEF1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000635 X transcript variant 1 NM_006240.2 NP_006231.2 30


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