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Gene | TP53 |
Variant | I254N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 I254N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I254N results in temperature-dependent alterations in Tp53 transactivation activity with decreased transactivation at physiological temperatures in culture (PMID: 20505364), and is associated with Tp53 overexpression in patient samples in one study (PMID: 26564006) and loss of Tp53 in patient samples in another (PMID: 38555766), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 I254N TP53 mutant TP53 inact mut TP53 I254N |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674202A>T |
cDNA | c.761T>A |
Protein | p.I254N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |