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Gene TP53
Variant S240Kfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 S240Kfs*25 indicates a shift in the reading frame starting at amino acid 240 and terminating 25 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S240Kfs*25 induces apoptosis similar to wild-type Tp53 in cultured cells, but demonstrates altered subcellular localization, minimal transactivation activity in a reporter assay, and decreased induction of Puma expression in cultured cells (PMID: 31081129), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 S240Kfs*25

TP53 mutant TP53 inact mut TP53 S240Kfs*25

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Transcript NM_000546.6
gDNA chr17:g.7674245_7674246insTTTT
cDNA c.718_719insAAAA
Protein p.S240Kfs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407268.1 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674245_7674246insTTTT c.718_719insAAAA p.S240Kfs*25 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References