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Gene | TSC2 |
Variant | R1459* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TSC2 R1459* results in a premature truncation of the Tsc2 protein at amino acid 1459 of 1807 (UniProt.org). R1459* has not been characterized however, due to the effects of other truncation mutations downstream of R1459 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 inact mut TSC2 R1459* |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084597C>T |
cDNA | c.4375C>T |
Protein | p.R1459* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.5 | chr16:g.2084597C>T | c.4375C>T | p.R1459* | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084597C>T | c.4375C>T | p.R1459* | RefSeq | GRCh38/hg38 |
NM_001406671.1 | chr16:g.2085245_2085246delCGinsTA | c.4375_4376delCGinsTA | p.R1459* | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2084669A>T | c.4375A>T | p.R1459* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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