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Gene | TP53 |
Variant | A88fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 A88fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 88 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). A88fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A88 (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 A88fs TP53 mutant TP53 inact mut TP53 A88fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7676107_7676108) |
cDNA | c.(262_261) |
Protein | p.A88fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7676107_7676108) | c.(262_261) | p.A88fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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