SMARCA4 - Gene Detail

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Gene Symbol SMARCA4
Synonyms BAF190 | BAF190A | BRG1 | CSS4 | hSNF2b | MRD16 | OTSC12 | RTPS2 | SNF2 | SNF2-beta | SNF2L4 | SNF2LB | SWI2
Gene Description SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, is a member of the SWI/SNF family, which regulates transcription through chromatin remodeling (PMID: 27413115). Mutations in Smarca4 have been linked to rhabdoid tumors as well as breast, prostate, lung, pancreas, and colon cancers (PMID: 18437052, PMID: 24145903, PMID: 19234488).
NCBI Gene ID Chromosome Map Location Canonical Transcript MANE Select Gene Role
6597 19 19p13.2 NM_003072 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