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Gene | TSC2 |
Variant | A1258R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 A1258R does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A1258R has been identified in the scientific literature (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 A1258R |
Transcript | NM_000548.5 |
gDNA | chr16:g.2081756_2081757delGCinsCG |
cDNA | c.3772_3773delGCinsCG |
Protein | p.A1258R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.4 | chr16:g.2081756_2081757delGCinsCG | c.3772_3773delGCinsCG | p.A1258R | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2081756_2081757delGCinsCG | c.3772_3773delGCinsCG | p.A1258R | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2082525_2082526delGCinsAG | c.3772_3773delGCinsAG | p.A1258R | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2081756_2081757delGCinsCG | c.3772_3773delGCinsCG | p.A1258R | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2081756_2081757delGCinsCG | c.3772_3773delGCinsCG | p.A1258R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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