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Gene | TSC2 |
Variant | N525S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | TSC2 N525S does not lie within any known functional domains of the Tsc2 protein (UniProt.org). N525S results in phosphorylation by Pkb, Tsc2 and S6 phosphorylation, Tsc1 binding, Rheb GTPase activity (PMID: 15483652), chaperone function, and Tsc1 subcellular localization similar to wild-type Tsc2 in culture (PMID: 11741832). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 N525S |
Transcript | NM_000548.5 |
gDNA | chr16:g.2064402A>G |
cDNA | c.1574A>G |
Protein | p.N525S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406696.1 | chr16:g.2079115A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522639.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_005255531.4 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_005255529.4 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001077183.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001363528.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_024450413.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406697.1 | chr16:g.2079115A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522639.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_017023616.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406691.1 | chr16:g.2079115A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_017023615.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406695.1 | chr16:g.2079115A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_021055.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522640.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522637.2 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2064402A>G | c.1574A>G | p.N525S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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