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Gene | TSC2 |
Variant | T1462A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 T1462A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). T1462A results in Tsc2 phosphorylation, binding to 14-3-3, and cellular localization similar to wild-type Tsc2 in culture (PMID: 23818547, PMID: 16636147, PMID: 20412061), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 T1462A |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084606A>G |
cDNA | c.4384A>G |
Protein | p.T1462A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548 | chr16:g.2084606A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2084606A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084606A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2084675A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2084675A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2084675A>G | c.4384A>G | p.T1462A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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