KIT

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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Known Variants (dbSNP)
Harmful Beneficial Normal
- - -
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 0
Known Variants (dbSNP) 0
With Severity Score 0
Total 0

Known vs. Novel Variants
Known Variants
0
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
0
0
Beneficial
0
0
Normal, Score 0-2
0
0

Gene Details  

This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

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Pharmaceuticals  
FDA approved drugs to treat condition Click on drug names to see more info
Imatinib

Imatinib (originally STI571) is a drug used to treat certain types of cancer. It is currently marketed by Novartis as Gleevec (USA) or Glivec (Europe/Australia/Latin America) as its mesylate salt, imatinib mesilate (INN). It is used in treating chronic myelogenous leukemia (CML), gastrointestinal stromal tumors (GISTs) and some other diseases. By 2011, Gleevec has been FDA approved to treat ten different cancers. In CML, the tyrosine kinase enzyme ABL is stuck in its activated form. It induces the abnormal phenotypes of CML, such as: excessive proliferation and high white blood cell count. Imatinib binds to the site of tyrosine kinase activity, and prevents its activity. Imatinib is the first member of a new class of agents that act by specifically inhibiting a certain enzyme that is characteristic of a particular cancer cell, rather than non-specifically inhibiting and killing all rapidly dividing cells, and served as a model for other targeted therapy modalities through tyrosine kinase inhibition.

Nilotinib

It was approved as Tasigna in the USA and the EU for drug-resistant chronic myelogenous leukemia (CML)[2]. In June 2006, a Phase I clinical trial found nilotinib, also known by its clinical code AMN107, has a relatively favorable safety profile and shows activity in cases of CML resistant to treatment with imatinib (Gleevec), another tyrosine kinase inhibitor currently used as a first-line treatment.[3] In that study 92% of patients (already resistant or unresponsive to imatinib) achieved a normal white blood cell counts after five months of treatment.[4] The drug carries a black box warning for possible heart complications.[5][6]

Sunitinib

Sunitinib (marketed as Sutent by Pfizer, and previously known as SU11248) is an oral, small-molecule, multi-targeted receptor tyrosine kinase (RTK) inhibitor that was approved by the FDA for the treatment of renal cell carcinoma (RCC) and imatinib-resistant gastrointestinal stromal tumor (GIST) on January 26, 2006. Sunitinib was the first cancer drug simultaneously approved for two different indications.[1]

Drugs in clinical trials
Many cKIT inhibitors in development including against gatekeeper resistance mutation T670I

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