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Gene | TP53 |
Variant | Y103fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 Y103fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 103 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Y103fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y103 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 Y103fs TP53 mutant TP53 inact mut TP53 Y103fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7676062_7676063) |
cDNA | c.(307_306) |
Protein | p.Y103fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.2 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7676062_7676063) | c.(307_306) | p.Y103fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 Y103fs | loss of function - predicted | p53 Gene Therapy |