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Gene | TSC2 |
Variant | P1497H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 P1497H does not lie within any known functional domains of the Tsc2 protein (UniProt.org). P1497H has been identified in the scientific literature (PMID: 35965503), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 P1497H |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084712C>A |
cDNA | c.4490C>A |
Protein | p.P1497H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406664.1 | chr16:g.2085019C>A | c.4490C>A | p.P1497H | RefSeq | GRCh38/hg38 |
NM_001406685.1 | chr16:g.2088474C>A | c.4490C>A | p.P1497H | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084712C>A | c.4490C>A | p.P1497H | RefSeq | GRCh38/hg38 |
NM_001406686.1 | chr16:g.2088474C>A | c.4490C>A | p.P1497H | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2084712C>A | c.4490C>A | p.P1497H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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