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Gene | TSC2 |
Variant | V1703M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 V1703M lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). V1703M has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 V1703M |
Transcript | NM_000548.5 |
gDNA | chr16:g.2088086G>A |
cDNA | c.5107G>A |
Protein | p.V1703M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.4 | chr16:g.2088086G>A | c.5107G>A | p.V1703M | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2088086G>A | c.5107G>A | p.V1703M | RefSeq | GRCh38/hg38 |
NM_001406678.1 | chr16:g.2088605G>A | c.5107G>A | p.V1703M | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2088086G>A | c.5107G>A | p.V1703M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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