SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1

Gene ID: 6602, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CSS11; Rsc6p; BAF60A; CRACD1

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Coffin-Siris syndrome 11 MedGen: C5241442OMIM: 618779GeneReviews: Not available	not available

Genomic context

Location:: 12q13.12

Sequence:: Chromosome: 12; NC_000012.12 (50085342..50100707)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SMARCD1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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