The SMARCA4 gene homepage

General information
Gene symbol SMARCA4
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Chromosome 19
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_011556.2
Transcript reference NM_001128844.1, NM_001128849.1
Exon/intron information NM_001128849.1 exon/intron table
Associated with diseases CSS, CSS4, ID, RTPS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Perdo Medina
Total number of public variants reported 350
Unique public DNA variants reported 158
Individuals with public variants 135
Hidden variants 25
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created June 25, 2010
Date last updated May 09, 2022
Version SMARCA4:220509

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_001128849.1.
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 11100
Entrez Gene 6597
PubMed articles SMARCA4
OMIM - Gene 603254
OMIM - Diseases CSS4 (MRD16)
RTPS2 (tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2))
GeneCards SMARCA4
GeneTests SMARCA4
Orphanet SMARCA4

Active transcripts




NCBI ID     

NCBI Protein ID     

00025305 19 transcript variant 2 NM_001128844.1 NP_001122316.1 314
00023826 19 transcript variant 1 NM_001128849.1 NP_001122321.1 302

Copyright & disclaimer
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