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Gene | TP53 |
Variant | S166Yfs*4 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 S166Yfs*4 indicates a shift in the reading frame starting at amino acid 166 and terminating four residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S166Yfs*4 has not been biochemically characterized however, due to the effects of truncation mutations downstream of S166 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 S166Yfs*4 TP53 mutant TP53 inact mut TP53 S166Yfs*4 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675115delG |
cDNA | c.497delC |
Protein | p.S166Yfs*4 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675115delG | c.497delC | p.S166Yfs*4 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 S166Yfs*4 | loss of function - predicted | p53 Gene Therapy |