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Gene | TP53 |
Variant | N345Ifs*26 |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 N345Ifs*26 indicates a shift in the reading frame starting at amino acid 345 and terminating 26 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). N345Ifs*26 results in oligomerization potential similar to wild-type Tp53, but results in increased Tp53 nuclear localization and protein stability, decreased DNA binding, and loss of Tp53 transactivation activity in cultured cells (PMID: 34045312). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 N345Ifs*26 TP53 mutant TP53 inact mut TP53 N345Ifs*26 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670676_7670677insAT |
cDNA | c.1033_1034insTA |
Protein | p.N345Ifs*26 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670676_7670677insAT | c.1033_1034insTA | p.N345Ifs*26 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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