Gene Variant Detail

Contact

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@jax.org

Gene KIT
Variant act mut
Impact List unknown
Protein Effect gain of function
Gene Variant Descriptions KIT act mut indicates that this variant results in a gain of function in the Kit protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04631744 Phase II Cabozantinib Cabozantinib in Patients With Metastatic Castrate Resistant Prostate Cancer (mCRPC) Recruiting USA 0
NCT04771520 Phase II Avapritinib Avapritinib for the Treatment of CKIT or PDGFRA Mutation-Positive Locally Advanced or Metastatic Malignant Solid Tumors Recruiting USA 0
NCT04487106 Phase II Azacitidine + Trametinib + Venetoclax Azacitidine, Venetoclax, and Trametinib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia or Higher-Risk Myelodysplastic Syndrome Completed USA 0
NCT02925234 Phase II Palbociclib Ribociclib Lenvatinib Ipilimumab + Nivolumab Trametinib Crizotinib Niraparib Selpercatinib Olaparib Erlotinib Erdafitinib Dabrafenib Dacomitinib Rucaparib Axitinib Panitumumab Pemigatinib Durvalumab Afatinib Entrectinib Tepotinib Alpelisib Atezolizumab + Bevacizumab Alectinib Regorafenib Cobimetinib + Vemurafenib Nilotinib Vismodegib Abemaciclib Sunitinib Nivolumab Cabozantinib Lorlatinib Talazoparib Dabrafenib + Trametinib Pembrolizumab Pertuzumab + Trastuzumab The Drug Rediscovery Protocol (DRUP Trial) (DRUP) Recruiting NLD 0
NCT02272998 Phase II Ponatinib Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT. Active, not recruiting USA 0
NCT05489237 Phase I IDRX-42 A First-in-human (FIH) Study of IDRX-42 in Participants With Metastatic and/or Unresectable Gastrointestinal Stromal Tumors (GIST) [Study ID: StrateGIST1] Recruiting USA | ESP | DEU | BEL 0
NCT04116541 Phase II Alectinib Cabozantinib Ribociclib + Siremadlin A Study Evaluating the Activity of Anti-cancer Treatments Targeting Tumor Molecular Alterations/Characteristics in Advanced / Metastatic Tumors. (MegaMOST) Recruiting FRA 0
NCT01874665 Phase II Ponatinib A Phase 2 Trial of Ponatinib in Patients With Metastatic and/or Unresectable Gastrointestinal Stromal Tumor Completed USA 0