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| Gene | BTK |
| Variant | C481X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BTK C481X indicates any BTK missense mutation that results in the replacement of the cysteine (C) at amino acid 481 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK C481X |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356175_101356177 |
| cDNA | c.1441_1443 |
| Protein | p.C481 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.2 | chrX:g.101356175_101356177 | c.1441_1443 | p.C481 | RefSeq | GRCh38/hg38 |
| NM_000061 | chrX:g.101356175_101356177 | c.1441_1443 | p.C481 | RefSeq | GRCh38/hg38 |
| NM_000061.3 | chrX:g.101356175_101356177 | c.1441_1443 | p.C481 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT01644253 | Phase I | Idelalisib + Otlertuzumab + Rituximab Otlertuzumab + Rituximab Obinutuzumab + Otlertuzumab Ibrutinib + Otlertuzumab Bendamustine + Otlertuzumab | Phase 1b Safety and Efficacy Study of TRU-016 | Terminated | USA | 0 |
| NCT02427451 | Phase Ib/II | Ibrutinib + Obinutuzumab + Venetoclax | Bcl-2 Inhibitor GDC-0199 in Combination With Obinutuzumab and Ibrutinib in Treating Patients With Relapsed, Refractory, or Previously Untreated Chronic Lymphocytic Leukemia | Active, not recruiting | USA | 0 |
| NCT05168930 | Phase II | Venetoclax + Zanubrutinib | Zanubrutinib and Venetoclax in CLL (ZANU-VEN) | Recruiting | USA | 0 |
| NCT04043845 | Phase I | Ibrutinib + LY3214996 | ERK 1/2 Signaling in Ibrutinib Resistant B-cell Malignancies | Withdrawn | 0 | |
| NCT04115059 | Phase I | Dasatinib | Dasatinib In Waldenstrom Macroglobulinemia | Terminated | USA | 0 |
| NCT03740529 | Phase Ib/II | Cyclophosphamide + Doxorubicin + Pirtobrutinib + Prednisone + Rituximab + Vincristine Sulfate Pirtobrutinib + Rituximab + Venetoclax Pirtobrutinib + Venetoclax Pirtobrutinib | A Study of Oral LOXO-305 in Patients With Previously Treated CLL/SLL or NHL | Completed | USA | SWE | POL | ITA | GBR | FRA | CHE | AUS | 2 |
| NCT04305444 | Phase II | DTRMWXHS-12 + Everolimus + Pomalidomide | Study of a Triple Combination Therapy, DTRM-555, in Patients With R/R CLL or R/R Non-Hodgkin's Lymphomas | Terminated | USA | 0 |