Gene Variant Detail

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Gene TP53
Variant R273*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 R273* results in a premature truncation of the Tp53 protein at amino acid 273 of 393 (UniProt.org). R273* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R273 (PMID: 31081129PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 R273*

TP53 mutant TP53 exon8 TP53 R273*

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Transcript NM_000546.6
gDNA chr17:g.7673801_7673803delCGTinsTGA
cDNA c.817_819delCGTinsTGA
Protein p.R273*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_000546 chr17:g.7673801_7673803delACGinsTCA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673801_7673803delACGinsTCA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673801_7673803delACGinsTCA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673801_7673803delCGTinsTGA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673801_7673803delACGinsTCA c.817_819delCGTinsTGA p.R273* RefSeq GRCh38/hg38

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

Sorting

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