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Gene | TP53 |
Variant | G302Afs*42 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 G302Afs*42 indicates a shift in the reading frame starting at amino acid 302 and terminating 42 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). G302Afs*42 has not been biochemically characterized however, due to the effects of truncation mutations downstream of G302 (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 G302Afs*42 TP53 mutant TP53 inact mut TP53 G302Afs*42 |
Transcript | NM_000546.5 |
gDNA | chr17:g.7673714_7673717delCCCT |
cDNA | c.905_908delGGAG |
Protein | p.G302Afs*42 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7673714_7673717delCCCT | c.905_908delGGAG | p.G302Afs*42 | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673714_7673717delCCCT | c.905_908delGGAG | p.G302Afs*42 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 G302Afs*42 | loss of function - predicted |