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Gene TP53
Variant S227Lfs*20
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions TP53 S227Lfs*20 indicates a shift in the reading frame starting at amino acid 227 and terminating 20 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S227Lfs*20 results in caspase-3 induction similar to wild-type Tp53, but confers a loss of function to Tp53 as indicated by failure to induce apoptosis in cultured cells, minimal transactivation activity in a reporter assay, and altered subcellular localization and decreased Puma and Bax expression in cultured cells (PMID: 31081129).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 S227fs TP53 S227Lfs*20

TP53 mutant TP53 inact mut TP53 S227fs TP53 S227Lfs*20

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Transcript NM_000546.6
gDNA chr17:g.7674283delG
cDNA c.680delC
Protein p.S227Lfs*20
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.6 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674283delG c.680delC p.S227Lfs*20 RefSeq GRCh38/hg38

Filtering

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  • 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 )
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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 Protein Effect Treatment Approaches
TP53 S227Lfs*20 loss of function p53 Gene Therapy