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Gene | TSC2 |
Variant | A1349Gfs*64 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TSC2 A1349Gfs*64 indicates a shift in the reading frame starting at amino acid 1349 and terminating 64 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). A1349Gfs*64 has not been characterized however, due to the effects of other truncation mutations downstream of A1349 (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 A1349Gfs*64 |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084268_2084269delCG |
cDNA | c.4046_4047delCG |
Protein | p.A1349Gfs*64 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522637.3 | chr16:g.(2083805_2084410) | c.(4045_4239) | p.A1349Gfs*64 | RefSeq | GRCh38/hg38 |
NM_001318832.2 | chr16:g.(2084435_2084629) | c.(4045_4239) | p.A1349Gfs*64 | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084268_2084269delCG | c.4046_4047delCG | p.A1349Gfs*64 | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2084468_2084469insGCCCCCCAAAA | c.4045_4046insGCCCCCCAAAA | p.A1349Gfs*64 | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2084268_2084269delCG | c.4046_4047delCG | p.A1349Gfs*64 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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