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Gene | TSC2 |
Variant | G1494D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 G1494D does not lie within any known functional domains of the Tsc2 protein (UniProt.org). G1494D has been identified in sequencing studies (PMID: 24121792, PMID: 33115932), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 G1494D |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084703G>A |
cDNA | c.4481G>A |
Protein | p.G1494D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548 | chr16:g.2084703G>A | c.4481G>A | p.G1494D | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084703G>A | c.4481G>A | p.G1494D | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2084703G>A | c.4481G>A | p.G1494D | RefSeq | GRCh38/hg38 |
NM_001406676.1 | chr16:g.2086230G>A | c.4481G>A | p.G1494D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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