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Gene | TSC2 |
Variant | W1208* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TSC2 W1208* results in a premature truncation of the Tsc2 protein at amino acid 1208 of 1807 (UniProt.org). W1208* has not been characterized however, due to the effects of other truncation mutations downstream of W1208 (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 W1208* |
Transcript | NM_000548.5 |
gDNA | chr16:g.2081607G>A |
cDNA | c.3623G>A |
Protein | p.W1208* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.4 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2081607G>A | c.3623G>A | p.W1208* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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