Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | SMARCB1 |
Variant | del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | SMARCB1 del indicates a deletion of the SMARCB1 gene, which leads to decreased levels of SWI/SNF subunits, decreased subunit incorporation into chromatin complexes (PMID: 27941797), and hyperactivation of EGFR and MET pathway signaling in cell culture (PMID: 23576573). SMARCB1 deletion has been frequently identified in epitheloid sarcoma (PMID: 23060122). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 inact mut SMARCB1 del |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|