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Gene | TP53 |
Variant | P219fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 P219fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 219 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P219fs results in complete loss of Tp53 expression in patient cells (PMID: 25231023), and due to the effects of truncation mutations downstream of P219 (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 P219fs TP53 mutant TP53 inact mut TP53 P219fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7674876_7674877) |
cDNA | c.(655_654) |
Protein | p.P219fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7674876_7674877) | c.(655_654) | p.P219fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 P219fs | loss of function - predicted | p53 Activator p53 Gene Therapy |