Gene Variant Detail

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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

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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_001126112.2 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_001126113.3 chr17:g.7673773_7673774insTTTGC c.846_847insGCAAA 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_001407264.1 chr17:g.7673773delG c.847delC p.R283Afs*62 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673773_7673774insTGGGGC c.846_847insGCCCCA 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_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_001126112.2 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_001126114.2 chr17:g.7673773_7673774insTGGGGC c.846_847insGCCCCA p.R283Afs*62 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673773_7673774insTGGGGC c.846_847insGCCCCA p.R283Afs*62 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673773_7673774insTGGGGC c.846_847insGCCCCA p.R283Afs*62 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References