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Gene | TP53 |
Variant | R283Afs*62 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R283Afs*62 indicates a shift in the reading frame starting at amino acid 283 and terminating 62 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). R283Afs*62 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R283 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R283Afs*62 TP53 mutant TP53 inact mut TP53 R283Afs*62 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673773delG |
cDNA | c.847delC |
Protein | p.R283Afs*62 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.7673773_7673774insTGGGGC | c.846_847insGCCCCA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673773_7673774insTGGGGC | c.846_847insGCCCCA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673773_7673774insTTTGC | c.846_847insGCAAA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673773_7673774insTGGGGC | c.846_847insGCCCCA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673773_7673774insTTTGC | c.846_847insGCAAA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673773_7673774insTGGGGC | c.846_847insGCCCCA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673773_7673774insTTTGC | c.846_847insGCAAA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673773_7673774insTGGGGC | c.846_847insGCCCCA | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673773delG | c.847delC | p.R283Afs*62 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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