The RBM8A gene homepage

General information
Gene symbol RBM8A
Gene name RNA binding motif protein 8A
Chromosome 1
Chromosomal band q21.1
Imprinted Unknown
Genomic reference LRG_574
Transcript reference NM_005105.3
Exon/intron information NM_005105.3 exon/intron table
Associated with diseases ID, TAR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 191
Unique public DNA variants reported 16
Individuals with public variants 650
Hidden variants 0
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 April 29, 2012
Date last updated May 09, 2022
Version RBM8A:220509

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_005105.3.
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/RBM8A
HGNC 9905
Entrez Gene 9939
PubMed articles RBM8A
OMIM - Gene 605313
OMIM - Diseases TAR (thrombocytopenia-absent radius syndrome (TAR))
HGMD RBM8A
GeneCards RBM8A
GeneTests RBM8A
Orphanet RBM8A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017505 1 RNA binding motif protein 8A NM_005105.3 NP_005096.1 191


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