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Gene | TP53 |
Variant | S149fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 S149fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 149 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S149fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S149 (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 S149fs TP53 mutant TP53 inact mut TP53 S149fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7675167_7675168) |
cDNA | c.(445_444) |
Protein | p.S149fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407266.1 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7675167_7675168) | c.(445_444) | p.S149fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 S149fs | loss of function - predicted |