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Gene | TP53 |
Variant | R209Kfs*6 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R209Kfs*6 indicates a shift in the reading frame starting at amino acid 209 and terminating 6 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). R209Kfs*6 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 R209fs TP53 R209Kfs*6 TP53 mutant TP53 inact mut TP53 R209fs TP53 R209Kfs*6 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674905_7674906delCT |
cDNA | c.626_627delGA |
Protein | p.R209Kfs*6 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |