Drug & Cancer & Variant
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Gene Variant Type Tumor Drug Drug level Reference More
TSC2 Oncogenic Mutations MUT Perivascular Epithelioid Cell Tumor ABI-009 II 2
Evidence region


Patient Criteria




Gene name


Full name

TSC complex subunit 2

Gene type



Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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