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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407269.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276696.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276761.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276696.3 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276696 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276760.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276695.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276760 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126118 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674905_7674906delCT | c.626_627delGA | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276761 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001126118.1 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
NM_001276695 | chr17:g.(7674201_7674221) | c.(625_645) | p.R209Kfs*6 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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