PDGFRB

platelet-derived growth factor receptor, beta polypeptide
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Known Variants (dbSNP)
Harmful Beneficial Normal
1 - 10
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 0
Known Variants (dbSNP) 11
With Severity Score 0
Total 11

Known vs. Novel Variants
Known Variants
11
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
1
0
Beneficial
0
0
Normal, Score 0-2
10
0

Gene Details  

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [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.

Pazopanib

Pazopanib (trade name Votrient) is a potent and selective multi-targeted receptor tyrosine kinase inhibitor of VEGFR-1, VEGFR-2, VEGFR-3, PDGFR-a/β, and c-kit that blocks tumor growth and inhibits angiogenesis. It has been approved for renal cell carcinoma by the U.S. Food and Drug Administration.[1] Pazopanib may also be active in ovarian cancer[2] and soft tissue sarcoma.[3] Pazopanib also appears effective in the treatment of non-small cell lung carcinoma.[2]

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]

Sorafenib

Sorafenib (marketed as Nexavar by Bayer), is a drug approved for the treatment of primary kidney cancer (advanced renal cell carcinoma) and advanced primary liver cancer (hepatocellular carcinoma).

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 TK inhibitors in clinical trials, Inhibit PDGFr

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