SMARCB1 - Gene Detail

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Gene Symbol SMARCB1
Synonyms BAF47 | CSS3 | hSNFS | INI-1 | INI1 | MRD15 | PPP1R144 | RDT | RTPS1 | Sfh1p | SNF5 | SNF5L1 | Snr1 | SWNTS1
Gene Description SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation (PMID: 23095836, PMID: 28109176). Smarcb1 inactivation through loss is characteristic of atypical teratoid/rhabdoid tumors (PMID: 23095836), schwannomas (PMID: 28368924, PMID: 28824165), sinonasal carcinomas (PMID: 29797680), and colon carcinoma (PMID: 32083567).
NCBI Gene ID Chromosome Map Location Canonical Transcript MANE Select Gene Role
6598 22 22q11 NM_003073 Y Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Molecular Profile Protein Effect Treatment Approaches
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries