The MAFB gene homepage

General information
Gene symbol MAFB
Gene name v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
Chromosome 20
Chromosomal band q11.1-q13.1
Imprinted Unknown
Genomic reference NG_023378.1
Transcript reference NM_005461.4
Exon/intron information NM_005461.4 exon/intron table
Associated with diseases DURS3, MCTO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Andreas Zankl
Total number of public variants reported 25
Unique public DNA variants reported 16
Individuals with public variants 19
Hidden variants -
Download all this gene's data Download all data
Notes 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 09, 2012
Date last updated February 26, 2024
Version MAFB: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_005461.4.
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/MAFB
HGNC 6408
Entrez Gene 9935
PubMed articles MAFB
OMIM - Gene 608968
OMIM - Diseases DURS3 (Duane retraction syndrome 3)
MCTO (osteolysis, carpotarsal, multicentric syndrome (MCTO))
HGMD MAFB
GeneCards MAFB
GeneTests MAFB
Orphanet MAFB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024285 20 v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B NM_005461.4 NP_005452.2 25


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