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Gene TP53
Variant I332Pfs*14
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions TP53 I332Pfs*14 indicates a shift in the reading frame starting at amino acid 332 and terminating 14 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). I332Pfs*14 induces DNA-damage related senescence in one of two cell lines, however, results in increased Tp53 stability and nuclear localization, and decreased oligomerization, DNA binding, and transactivation of Tp53 targets, and leads to altered cell cycle in cultured cells (PMID: 34045312).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 I332Pfs*14

TP53 mutant TP53 inact mut TP53 I332Pfs*14

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Transcript NM_000546.6
gDNA chr17:g.7670715_7670716insGG
cDNA c.994-1_994insCC
Protein p.I332Pfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7670715_7670716insGG c.994-1_994insCC p.I332Pfs*14 RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries