Gene Variant Detail

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Gene TP53
Variant M44fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 M44fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 44 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). M44fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M44 (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 M44fs

TP53 mutant TP53 inact mut TP53 M44fs

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Transcript NM_000546.6
gDNA chr17:g.(7676239_7676240)
cDNA c.(130_129)
Protein p.M44fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113.2 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7676239_7676240) c.(130_129) p.M44fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References