TSC2 I1561Hfs*5
Gene Variant Detail

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Gene TSC2
Variant I1561Hfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 I1561Hfs*5 indicates a shift in the reading frame starting at amino acid 1561 and terminating 5 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). I1561Hfs*5 has not been characterized however, due to the effects of other truncation mutations downstream of I1561 (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 I1561Hfs*5

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Transcript NM_000548.5
gDNA chr16:g.2086210dupC
cDNA c.4680dupC
Protein p.I1561Hfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406670.1 chr16:g.2086742_2086743insCACCCCCCCCCCTA c.4680_4681insCACCCCCCCCCCTA p.I1561Hfs*5 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2086210dupC c.4680dupC p.I1561Hfs*5 RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2086210dupC c.4680dupC p.I1561Hfs*5 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References