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Gene | TP53 |
Variant | M40fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 M40fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 40 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). M40fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M40 (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 M40fs TP53 mutant TP53 inact mut TP53 M40fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7676251_7676252) |
cDNA | c.(118_117) |
Protein | p.M40fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407264.1 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7676251_7676252) | c.(118_117) | p.M40fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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