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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 |
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_000548.4 | chr16:g.2086210dupC | c.4680dupC | p.I1561Hfs*5 | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2086210dupC | c.4680dupC | p.I1561Hfs*5 | RefSeq | GRCh38/hg38 |
NM_001406670.1 | chr16:g.2086742_2086743insCACCCCCCCCCCTA | c.4680_4681insCACCCCCCCCCCTA | p.I1561Hfs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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