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Gene | TP53 |
Variant | M246I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 M246I lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M246I confers a loss of function on Tp53 protein as indicated by reduced DNA binding, decreased transcription activity, and failure to induce apoptosis in cell culture (PMID: 10777217). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 M246I TP53 mutant TP53 inact mut TP53 M246I |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674225C>G |
cDNA | c.738G>C |
Protein | p.M246I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |