The TAB3 gene homepage

General information
Gene symbol TAB3
Gene name TGF-beta activated kinase 1/MAP3K7 binding protein 3
Chromosome X
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_012845.2
Transcript reference NM_152787.3
Exon/intron information NM_152787.3 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 34
Unique public DNA variants reported 27
Individuals with public variants 4
Hidden variants 3
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 17, 2010
Date last updated February 26, 2024
Version TAB3:240226

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_152787.3.
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 https://www.LOVD.nl/TAB3
HGNC 30681
Entrez Gene 257397
PubMed articles TAB3
OMIM - Gene 300480
HGMD TAB3
GeneCards TAB3
GeneTests TAB3
Orphanet TAB3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000857 X TGF-beta activated kinase 1/MAP3K7 binding protein 3 NM_152787.3 NP_690000.2 34


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