TSC2 - Gene Detail

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Gene Symbol TSC2
Synonyms LAM | PPP1R160 | TSC4
Gene Description TSC2, TSC complex subunit 2, forms a complex with Tsc1 and inhibits mTOR pathway signaling, thus regulating cell growth and metabolism (PMID: 27226234). Germline TSC2 inactivating mutations cause tuberous sclerosis complex and somatic TSC2 mutations have been identified in various cancers, including renal cell carcinoma, sarcoma, and breast cancer (PMID: 27226234, PMID: 30303819, PMID: 28860410, PMID: 28027327).
ACMG Incidental List v3.0:
Yes, Tuberous sclerosis complex (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript MANE Select Gene Role
7249 16 16p13.3 NM_000548 Y Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Molecular Profile Protein Effect Treatment Approaches
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries