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Gene | TP53 |
Variant | C275* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C275* results in a premature truncation of the Tp53 protein at amino acid 275 of 393 (UniProt.org). C275* results in a loss of Tp53 transactivation activity and inability to suppress colony formation in cell culture (PMID: 25584008). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 C275* TP53 mutant TP53 inact mut TP53 C275* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673795A>T |
cDNA | c.825T>A |
Protein | p.C275* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |