Gene Variant Detail

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Gene TP53
Variant S46fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 S46fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 46 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S46fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S46 (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 S46fs

TP53 mutant TP53 inact mut TP53 S46fs

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Transcript NM_000546.6
gDNA chr17:g.(7676233_7676234)
cDNA c.(136_135)
Protein p.S46fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407266.1 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7676233_7676234) c.(136_135) p.S46fs RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries