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Gene TSC2
Variant Q1178*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 Q1178* results in a premature truncation of the Tsc2 protein at amino acid 1178 of 1807 (UniProt.org). Q1178* has not been characterized however, due to the effects of other truncation mutations downstream of Q1178 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 Q1178*

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Transcript NM_000548.5
gDNA chr16:g.2080299C>T
cDNA c.3532C>T
Protein p.Q1178*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.2 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
XM_011522636 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_000548 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2088521C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2080341C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38
NM_001114382 chr16:g.2080299C>T c.3532C>T p.Q1178* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC2 Q1178* thyroid cancer predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a thyroid cancer patient harboring TSC2 Q1178* demonstrated an 18-month response to Afinitor (everolimus) (PMID: 25295501; NCT00936858). 25295501