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Gene | TP53 |
Variant | R282fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R282fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 282 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R282fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R282 (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 R282fs TP53 mutant TP53 inact mut TP53 R282fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7673776_7673777) |
cDNA | c.(844_843) |
Protein | p.R282fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.(7673776_7673777) | c.(844_843) | p.R282fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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