The PAX3 gene homepage

General information
Gene symbol PAX3
Gene name paired box 3
Chromosome 2
Chromosomal band q36.1
Imprinted Unknown
Genomic reference NG_011632.1
Transcript reference NM_181457.3
Exon/intron information NM_181457.3 exon/intron table
Associated with diseases CDHS, RMS2, WS, WS1, WS3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Veronique Pingault
Total number of public variants reported 244
Unique public DNA variants reported 162
Individuals with public variants 314
Hidden variants 14
Download all this gene's data Download all data
Notes Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created October 02, 2009
Date last updated October 24, 2021
Version PAX3:211024

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_181457.3.
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
HGNC 8617
Entrez Gene 5077
PubMed articles PAX3
OMIM - Gene 606597
OMIM - Diseases CDHS (craniofacial deafness hand syndrome (CDHS))
RMS2 (rhabdomyosarcoma, type 2 (RMS2))
WS1 (Waardenburg syndrome, type 1 (WS1))
WS3 (Waardenburg syndrome, type 3 (WS3))
GeneCards PAX3
GeneTests PAX3
Orphanet PAX3

Active transcripts




NCBI ID     

NCBI Protein ID     

00024240 2 transcript variant PAX3 NM_181457.3 NP_852122.1 244

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