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Gene | TP53 |
Variant | P87Ifs*54 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 P87Ifs*54 indicates a shift in the reading frame starting at amino acid 87 and terminating 54 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). P87Ifs*54 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P87 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 P87Ifs*54 TP53 mutant TP53 inact mut TP53 P87Ifs*54 |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7675189_7676110) |
cDNA | c.(259_423) |
Protein | p.P87Ifs*54 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126117.2 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126115.1 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126116 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126117 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126116.1 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126117.1 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126115 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126116.2 | chr17:g.(7673801_7674876) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7675189_7676110) | c.(259_423) | p.P87Ifs*54 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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