Gene Variant Detail

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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: 31081129PMID: 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

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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_001126112.3 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_001126112.2 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_000546.6 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
NM_001126114 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_001126114.3 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_001126114.2 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_001407264.1 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_000546 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_001407270.1 chr17:g.(7673776_7673777) c.(844_843) p.R282fs RefSeq GRCh38/hg38

Filtering

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Sorting

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