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Gene | TP53 |
Variant | V274fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 V274fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 274 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V274fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V274 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 V274fs TP53 mutant TP53 inact mut TP53 V274fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7673800_7673801) |
cDNA | c.(820_819) |
Protein | p.V274fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.3 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7673800_7673801) | c.(820_819) | p.V274fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK TP53 V274fs | lung non-small cell carcinoma | resistant | Alectinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, non-small cell lung cancer cells harboring EML4-ALK and TP53 V274* were resistant to treatment with Alecensa (alectinib), demonstrating cell growth in culture and tumor growth in cell line xenograft models (PMID: 33310890). | 33310890 |
EML4 - ALK TP53 V274fs | lung non-small cell carcinoma | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cells harboring EML4-ALK and TP53 V274fs were resistant to treatment with Xalkori (crizotinib) in culture (PMID: 33310890). | 33310890 |
EML4 - ALK TP53 V274fs | lung non-small cell carcinoma | sensitive | Alectinib + Ixazomib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, the combination therapy of Alecensa (alectinib) and Ninlaro (ixazomib) inhibited the proliferation of non-small cell lung cancer cells harboring EML4-ALK and TP53 Q331* in culture and resulted in tumor regression in cell line xenograft models, with 3/8 achieving complete tumor regression (PMID: 33310890). | 33310890 |