The PRX gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PRX
Gene name periaxin
Chromosome 19
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_007979.1
Transcript reference NM_020956.2, NM_181882.2
Exon/intron information NM_020956.2 exon/intron table, NM_181882.2 exon/intron table
Associated with diseases CMT-4F, Dejerine-Sottas
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 134
Unique public DNA variants reported 107
Individuals with public variants 74
Hidden variants 22
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated May 24, 2021
Version PRX:210524

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_020956.2, NM_181882.2.
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/PRX
HGNC 13797
Entrez Gene 57716
PubMed articles PRX
OMIM - Gene 605725
OMIM - Diseases CMT-4F (Charcot-Marie-Tooth disease, type 4F (CMT-4F))
Dejerine-Sottas (neuropathy, hypertrophic, Dejerine-Sottas (Dejerine-Sottas))
HGMD PRX
GeneCards PRX
GeneTests PRX
Orphanet PRX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023867 19 transcript variant 2 NM_181882.2 NP_870998.2 133
00016986 19 transcript variant 1 NM_020956.2 NP_066007.1 101


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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