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TP53 S240Kfs*25 - Gene Variant Detail

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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

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