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Gene | TP53 |
Variant | E198_G199del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E198_G199del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 198 to 199 (PMID: 22713868). E198_G199del results in increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 E198_G199del TP53 mutant TP53 inact mut TP53 E198_G199del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674934_7674939delTCCTTC |
cDNA | c.592_597delGAAGGA |
Protein | p.E198_G199delEG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |