Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | G279fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 G279fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 279 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G279fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G279 (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 G279fs TP53 mutant TP53 inact mut TP53 G279fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7673785_7673786) |
cDNA | c.(835_834) |
Protein | p.G279fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.2 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7673785_7673786) | c.(835_834) | p.G279fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 G279fs | loss of function - predicted |